Heritable Malformations of the Kidney and Urinary Tract

  • Enid F. Gilbert-Barness
  • John M. Opitz
  • Lewis A. Barness
Part of the Topics in Renal Medicine book series (TIRM, volume 9)


A malformation is defined as a morphological defect of an organ, part of an organ, or a larger region of the body resulting from an intrinsically abnormal developmental process [1].


Renal Agenesis Horseshoe Kidney Gonadal Dysgenesis Renal Dysplasia Cystic Kidney 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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  1. 1.
    Spranger J, Benirschke K, Hall JG, Lenz W, Lowry RB, Opitz JM, Pinsky L, Schwarzacher HG, Smith DW: Errors of morphogenesis: concepts and terms. Recommendations of an international working group. J Pediatr 100:160, 1982.PubMedGoogle Scholar
  2. 2.
    Barth RA, Mindell HJ: Renal masses in the fetus and neonate: ultrasonographic diagnosis. Semin Ultrasound CT MR 5:3–18, 1984.Google Scholar
  3. 3.
    Harrison MR, Golbus MS, Filly RA, et al.: Fetal surgery for congenital hydronephrosis. N Engl J Med 306:591–593, 1982.PubMedGoogle Scholar
  4. 4.
    Bernstein J: Developmental abnormalities of the renal parenchyma—hypoplasia and dysplasia. Pathol Annu 3:213–247, 1968.Google Scholar
  5. 5.
    Bernstein J: The morphogenesis of renal parenchymal maldevelopment (renal dysplasia). Pediatr Clin North Am 18:395–407, 1971.PubMedGoogle Scholar
  6. 6.
    Pathak IG, Williams DI: Multicystic and cystic dysplastic kidneys. Br J Urol 36:318–331, 1963.Google Scholar
  7. 7.
    Griscom NT, Vawter GF, Fellers FX: Pelvoinfundibular atresia: the usual form of multicystic kidney: 44 unilateral and two bilateral cases. Semin Roentgenol 10:125j–131, 1975.Google Scholar
  8. 8.
    Vellios F, Garrett RA: Congenital unilateral multicystic disease of the kidney. A clinical and anatomic study of seven cases. Am J Clin Pathol 35:244–254, 1961.PubMedGoogle Scholar
  9. 9.
    Gaddy CD, Gibbons MD, Gonzales ET Jr, Finegold MJ: Obstructive uropathy, renal dysplasia and nodular renal blastema: is there a relationship to Wilms tumor? J Urol 134:330–333, 1985.PubMedGoogle Scholar
  10. 10.
    Barrett DM, Wineland RE: Renal cell carcinoma in multicystic dysplastic kidney. Urology 15:152–154, 1980.PubMedGoogle Scholar
  11. 11.
    Birken G, King D, Vane D, Lloyd T: Renal cell carcinoma arising in a multicystic dysplastic kidney. J Pediatr Surg 20:619–621, 1985.PubMedGoogle Scholar
  12. 12.
    Bearman SB, Hine PL, Sanders RC: Multicystic kidney: a sonographic pattern. Radiology 118:685–688, 1976.PubMedGoogle Scholar
  13. 13.
    Stuck KJ, Koff SA, Silver TM: Ultrasonic features of multicystic dysplastic kidney: expanded diagnostic criteria. Radiology 143:217–221, 1982.PubMedGoogle Scholar
  14. 14.
    Greene LF, Feinzaig W, Dahlin DC: Multicystic dysplasia of the kidney: with special reference to the contralateral kidney. J Urol 105:482–487, 1971.PubMedGoogle Scholar
  15. 15.
    Kleiner B, Filly RA, Mack L, Callen PW: Multicystic dysplastic kidney: observations of contralateral disease in the fetal population. Radiology 161:27–29, 1986.PubMedGoogle Scholar
  16. 16.
    Fraser FC, Lytwyn A: Spectrum of anomalies in the Meckel syndrome, or: “Maybe there is a malformation syndrome with at least one constant anomaly.” Am J Med Genet 9:67–73, 1981.PubMedGoogle Scholar
  17. 17.
    Rapola J, Salonen R: Visceral anomalies in the Meckel syndrome. Teratology 31:193–201, 1985.PubMedGoogle Scholar
  18. 18.
    Bernstein J: Hepatic and renal involvement in malformation syndromes. Mt Sinai J Med 53:421–428, 1986.PubMedGoogle Scholar
  19. 19.
    Al Saadi AA, Yoshimoto M, Bree R, et al.: A family study of renal dysplasia. Am J Med Genet 19:669–677, 1984.PubMedGoogle Scholar
  20. 20.
    Buchta RM, Viseskul C, Gilbert EF, Sarto GE, Opitz JM: Familial bilateral renal agenesis and hereditary renal adysplasia. Z Kinderheilk 115:111–129, 1973.PubMedGoogle Scholar
  21. 21.
    McPherson E, Carey J, Kramer A, et al.: Dominantly inherited renal adysplasia. Am J Med Genet 26:863–872, 1987.PubMedGoogle Scholar
  22. 22.
    Squiers EC, Morden RS, Bernstein J: Renal multicytic dysplasia. An occasional manifestation of the hereditary renal adysplasia syndrome. Am J Med Genet, in press.Google Scholar
  23. 23.
    Milliken LD, Hodgson NB: Real dysplasia due to urethral valves. J Urol 108:960–962, 1972.PubMedGoogle Scholar
  24. 24.
    Gilbert EF, Opitz JM: Renal abnormalities in malformation syndromes. In: Edelmann CM Jr, Bernstein J, Meadow R, Travis LB, Spitzer A (eds): Pediatric Kidney Disease. Boston: Little Brown, in press.Google Scholar
  25. 25.
    Rubenstein M, Meyer R, Bernstein J: Congenital abnormalities of the urinary system. I. A postmortem survey of developmental abnormalities and acquired congenital lesions in a children’s hospital. J Pediatr 58:356–366, 1961.PubMedGoogle Scholar
  26. 26.
    Bernstein J, Brough AJ, McAdams AJ: The renal lesion in syndromes of multiple congential malformations: Cerebrohepatorenal syndrome; Jeune asphyxiating thoracic dystrophy; tuberous sclerosis; Meckel syndrome. Birth Defects: 10(4):35–43, 1974.PubMedGoogle Scholar
  27. 27.
    Yates JRW, Mortimer G, Connor JM, Euke EJ: Concordant monozygotic twins with bilateral renal agenesis. J Med Genet 21:66, 1984.PubMedGoogle Scholar
  28. 28.
    Roodhooft AM, Birnholz JC, Holmes LB: Familial nature of congenital absence and severe dysgenesis of both kidneys. N Engl J Med 310:1341, 1984.PubMedGoogle Scholar
  29. 29.
    Bernstein J, Rissane JM: Hereditary disorders of the kidney. In: Rosenberg HS, Bolande RP (ed): Perspectives in Pediatric Pathology. Chicago: Year Book Medical, 1973, p. 117.Google Scholar
  30. 30.
    Kornguth S, Knobeloch L, Viseskul C, Gilbert E, Opitz J: Defect of cerebellar Purkinje cell histogenesis associated with type I and type II renal cystic disease. Acta Neuropathol (Berlin) 40:1, 1977.Google Scholar
  31. 31.
    Bernstein J, Meyer R: Parenchymal maldevelopment of the kidney. In: Brennemann-Kelley (ed): Practice of Pediatrics. Hagerstown: Harper and Row, 1967.Google Scholar
  32. 32.
    Gonzalez-Angulo A, Alford BR, Greenberg SD: Tuberous sclerosis: an otolaryngic diagnosis. Arch Otolaryng 80:193, 1964.PubMedGoogle Scholar
  33. 33.
    Osathanondh V, Potter EL: Pathogenesis of polycystic kidneys. Arch Pathol 77:459, 1964.PubMedGoogle Scholar
  34. 34.
    Orlandi P, Buffatti G, Lorenzini W, Battaglino G, Castellami T: Rabdomioma del cuore con sclerosi tuberosa dell’ encefalo e reni micropolicistici in un lattante. Fracastoro 63:740, 1979.Google Scholar
  35. 35.
    Cree JE: Tuberous sclerosis with polycystic kidneys. Proc R Soc Med (London) 62:327, 1969.Google Scholar
  36. 36.
    Von Hippel E: Über eine sehr seltene Erkrankung der Netzhaut; klinische Beobächtungen. Arch Ophthalmol 59:83, 1904.Google Scholar
  37. 37.
    Lindau A: Cysts in cerebellum: structure, pathogenesis and relations to angiomatosis of retina. Acta Pathol Microbiol Scand (Suppl) 1:1, 1926.Google Scholar
  38. 38.
    Tonning HO, Warren RF, Barrie HJ: Familial haemangiomata of the cerebellum: report of three cases in a family of four. J Neurosurg 9:124, 1952.PubMedGoogle Scholar
  39. 39.
    Kieselstein M, Herman G, Wahrman J, Ross R, Feuchtwanger M, Kadar S: Mucocutaneous pigmentation and intestinal polyposis (Peutz-Jeghers syndrome) in a family of Iraqi Jews with polycystic kidney disease with a chromosome study. Isr J Med Sci 5:81, 1969.PubMedGoogle Scholar
  40. 40.
    Gilbert E, Opitz J: Renal involvement in genetic-hereditary malformation syndromes. In: Hamburger J, Crosnier J, Grunfeld JP (eds): Nephrology. New York: Wiley-Flammarion, 1979, pp. 909–944.Google Scholar
  41. 41.
    Grosse FR, Kaveggia E, Opitz JM: Familial hydronephrosis. Z Kinderheilk 114:313, 1973.PubMedGoogle Scholar
  42. 42.
    Pochaczevsky R, Parviz N, Ratner H: Congenital nonobstructive hydronephrosis and bilateral vesicoureteral reflux in identical twins. Am J Roentgenol 120:398, 1974.Google Scholar
  43. 43.
    Finn R, Carruthers JA: Genetic aspects of hydronephrosis associated with renal agenesis. Br J Urol 46:351, 1974.PubMedGoogle Scholar
  44. 44.
    Orr LM: Familial hydronephrosis. Urologists’ Correspondence Club Letter. August 4, 1961.Google Scholar
  45. 45.
    Jewll JH, Buchert WI: Unilateral hereditary hydronephrosis: a report of four cases in three consecutive generations. J Urol (Baltimore) 88:129, 1962.Google Scholar
  46. 46.
    Watson GH, Miller V: Arteriohepatic dysplasia. Familial pulmonary arterial stenosis with neonatal liver disease. Arch Dis Child 48:459–466, 1973.PubMedGoogle Scholar
  47. 47.
    Alagille D, Odievre M, Gautier M, Dommergues JP: Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur. J Pediatr 86:63–71, 1975.PubMedGoogle Scholar
  48. 48.
    Riely CA, Cotlier E, Jensen PS, Klatskin G: Arteriohepatic dysplasia: a benign syndrome of intrahepatic cholestasis with multiple organ involvement. Ann Intern Med 91:520–527, 1979.PubMedGoogle Scholar
  49. 49.
    Alagille D, Odievre M: Cholestasis in children. In: Alagille D, Odievre M (eds): Liver and Biliary Tract Disease in Children. New York: John Wiley & Sons, Inc., 1979, pp. 108–185.Google Scholar
  50. 50.
    Henriksen NT, Langmark F, Soriana SJ, Fausa O, Landaas S, Aagenaes O: Hereditary cholestasis combined with peripheral pulmonary stenosis and other anomalies. Acta Paediatr Scand 66:7–15, 1977.PubMedGoogle Scholar
  51. 51.
    LaBrecque DR, Mitros FA, Nathan RJ, Romanchuk KG, Judisch GF El-Khoury GH: Four generations of arteriohepatic dysplasia. Hepatology 2:467–474, 1982.PubMedGoogle Scholar
  52. 52.
    Riely CA, LaBrecque DR, Ghent C, Horwich A, Klatskin G: A father and son with cholestasis and peripheral pulmonic stenosis. J Pediatr 92:406–411, 1978.PubMedGoogle Scholar
  53. 53.
    Watson GH, Miller V: Arteriohepatic dysplasia. Familial pulmonary arterial stenosis with neonatal liver disease. Arch Dis Child 48:459–466, 1973.PubMedGoogle Scholar
  54. 54.
    Similä S, Vesa L, Wasz-Hockert O: Hereditary onycho-osteodysplasia (the nail-patella syndrome) with nephrosis-like renal disease in a newborn boy. Pediatrics 46:61, 1970.PubMedGoogle Scholar
  55. 55.
    Lester AM: Familial dyschondroplasia associated with anonchia and other deformities. Lancet ii:1519, 1936.Google Scholar
  56. 56.
    Lucas GL, Opitz JM: The nail-patella syndrome: Clinical and genetic aspects of 5 kindreds with 38 affected family members. J Pediatr 68:273, 1966.Google Scholar
  57. 57.
    Del Pozo E, Lapp H: Ultrastructure of the kidney in the nephropahy of the nail-patella syndrome. Am J Clin Pathol 54:845, 1970.PubMedGoogle Scholar
  58. 58.
    Ben-Bassat M, Cohen L, Rosenfeld J: The glomerular basement membrane in the nail-patella syndrome. Arch Pathol 92:350, 1971.PubMedGoogle Scholar
  59. 59.
    Bennett WM, Musgrave JE, Campbell RA, Elliot D, Cos R, Brooks RE, Lovrien EW, Beals RK, Porter GA: The nephropathy of nail-patella syndrome. Clinicopathologic analysis of 11 kindred. Am J Med 54:304, 1973.PubMedGoogle Scholar
  60. 60.
    Manigand G, Auzepy P, Paillas AJ, Cohen de Lara A, Deparis M: Osteo-onycho-dysplasie avec nephropathie: Etude anatomo-clinique. Sem Hôp Paris 47:2956, 1971.Google Scholar
  61. 61.
    Morita T, Laughlin LO, Kawano K, Kimmelstiel P, Suzuki Y, Churg J: Nail-patella syndrome: light and electron microscopic studies of the kidney. Arch Intern Med 131:271, 1973.PubMedGoogle Scholar
  62. 62.
    Gubler MC, Levy M, Naizot C, Habib R: Glomerular basement membrane changes in hereditary glomerular disease. Renal Physiol 3:405, 1980.PubMedGoogle Scholar
  63. 63.
    Melnick M, Bixler D, Silk K, Yune H, Nance W: Autosomal dominant branchio-oto-renal dysplasia. Birth Defects 11(5):121, 1975.PubMedGoogle Scholar
  64. 64.
    Fraser FC, Ling D, Clogg D, Nogrady B: Genetic aspects of the BOR syndrome—branchial fistulas, ear pits, hearing loss, and renal anomalies. Am J Med Genet 2:241, 1978.PubMedGoogle Scholar
  65. 65.
    Fraser FC, Sproule Jr, Halal F: Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss. Am J Med Genet 7:341, 1980.PubMedGoogle Scholar
  66. 66.
    Opitz JM, Frias JL, Gutenberger JE, Pellett JR: The G syndrome of multiple congenital anomalies. Birth Defects 5(2):95, 1969.Google Scholar
  67. 67.
    Little JR, Opitz JM: The G syndrome. Am J Dis Child 121:505, 1971.PubMedGoogle Scholar
  68. 68.
    Kasner J, Gilbert EF, Viseskul C, Deacon J, Herrmann JPR, Opitz JM: Studies of malformation syndromes VID: the G syndrome. Further observations. Z Kinderheilk 118:81, 1974.PubMedGoogle Scholar
  69. 69.
    Gilbert EF, Viseskul C, Mossman HW, Opitz JM: The pathologic anatomy of the G syndrome. Z Kinderheilk 111:290, 1972.PubMedGoogle Scholar
  70. 70.
    Eckoldt JG, Martens FH: Über eine sehr komplicierte Hasenscharte. Leipzig: Steinacker, 1804.Google Scholar
  71. 71.
    Ahrens K: Chromosomale Untersuchungen bei craniofacialen Missbildungen (Cases 3A, B). HNO 15:106, 1967.PubMedGoogle Scholar
  72. 72.
    Kampe K: Kasuistische Beiträge zur Lehre von den Missbildungen. Münch Med Wochenschr 50:165, 1903.Google Scholar
  73. 73.
    Walker JC, Clodius L: The syndromes of cleft lip, cleft palate and lobster-claw deformities of hands and feet. Plast Reconstr Surg 32:627, 1963.PubMedGoogle Scholar
  74. 74.
    Wiegmann OA, Walker FA: The syndrome of lobster claw deformity and nasolacrimal obstruction. J Pediatr Ophthalmol 7:79, 1970.Google Scholar
  75. 75.
    Bixler D, Spivack J, Bennett J, Christian JC: The ectrodactyly-ectodemal dysplasia-clefting (EEC) syndrome. Clin Genet 3:43, 1971.Google Scholar
  76. 76.
    Cockayne E A: Dwarfism with retinal atrophy and deafness. Arch Dis Child 21:52,1946Google Scholar
  77. 77.
    Kaiser-Kupfer M: Ectrodaetyly, ectodermal dysplasia and clefting syndrome. Am J Ophthalmol 76:992, 1973.PubMedGoogle Scholar
  78. 78.
    Robinson GC, Wildervanck LS, Chiang TP: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome. J Pediatr 82:107, 1973.PubMedGoogle Scholar
  79. 79.
    Rüdiger RA, Haase W, Passarge E: Association of ectrodactyly, ectodermal dysplasia, and cleft lip-palate. Am J Dis Child 120:160, 1970.PubMedGoogle Scholar
  80. 80.
    Pfeiffer RA, Verbeck C: Spalthand und Spaltfuss, ektodermale dysplasie und Lippen-Kiefer-Gaumen-Spalte: ein autosomal dominant vererbtes Syndrom. Z Kinderheilkd 115:235, 1973.PubMedGoogle Scholar
  81. 81.
    Townes PL, Brocks ER: Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies. J Pediatr 81:321, 1972.PubMedGoogle Scholar
  82. 82.
    Kurnit DM, Steele MW, Pinsky L, Dibbins A: Autosomal dominant transmission of a syndrome of anal, ear, renal and radial congenital malformations. J Pediatr 93:270, 1978.PubMedGoogle Scholar
  83. 83.
    Reid IS, Turner G: Familial anal abnormality. J Pediatr 88:992, 1976.PubMedGoogle Scholar
  84. 84.
    Monteiro de Pina-Neto JM: Phenotypic variability in Townes-Brocks syndrome. Am J Med Genet, in press.Google Scholar
  85. 85.
    Smith DW: Recognizable Patterns of Human Malformation, 4th ed. Philadelphia: Saunders, 1988.Google Scholar
  86. 86.
    Königsmark BW, Gorlin RJ: Genetic and Metabolic Deafness. Philadelphia: WB Saunders Company, 1976, pp. 60–62.Google Scholar
  87. 87.
    Emery AEH, Oleesky S, Williams RT: Myotonic dystrophy and polycystic disease of the kidneys. J Med Genet 4:26, 1967.PubMedGoogle Scholar
  88. 88.
    Elejalde BR: Genetic and diagnostic considerations in three families with abnormalities of facial expression and congenital urinary obstruction: “The Ochoa syndrome.” Am J Med Genet 3:97, 1979.PubMedGoogle Scholar
  89. 89.
    Brachmann W: Ein Fall von symmetrische Monodactylie durch Ulnadefekt und symmetrischer Flughautbildung in den Ellenbeugen, sowie anderen Abnormitäten (Zwerghaftigkeit, Halsrippen, Behaarung). Jahrb Kinderh 84:225, 1916.Google Scholar
  90. 90.
    de Lange C: Sur un type nouveau de generation (typus Amstelodamensis). Arch Med Enfant 36:713, 1933.Google Scholar
  91. 91.
    France NE, Crome L, Abraham JM: Pathological features in the de Lange Syndrome. Acta Pediatr Scand 58:470, 1969.Google Scholar
  92. 92.
    Saraiva MJM, Birkin S, Costa PP, Boodman DS: Amyloid fibril protein in familial amyloidotic polyneuropathy Portugese type. J Clin Invest 74:104, 1984.PubMedGoogle Scholar
  93. 93.
    Van Allen NW, Frohlich JA, Davis JR: Inherited predisposition to generalized amyloidosis. Neurology 19:10, 1969.PubMedGoogle Scholar
  94. 94.
    Opitz JM, Howe JJ: The Meckel syndrome (dysencephalia splanchnocystica, the Gruber syndrome). Birth Defects 5(2):167, 1969.Google Scholar
  95. 95.
    Lowry RB, Hill RH, Tischler B: Survival and spectrum of anomalies in the Meckel syndrome. Am J Med Genet 14:417, 1983.PubMedGoogle Scholar
  96. 96.
    Salonen R, Norio R: The Meckel syndrome in Finland; epidemiologic and genetic aspects. Am J Med Genet 18:691, 1984.PubMedGoogle Scholar
  97. 97.
    Seller MJ: Meckel syndrome and the prenatal diagnosis of neural tube defects. J Med Genet 15:462, 1978.PubMedGoogle Scholar
  98. 98.
    Holmes LB, Driscoll SG, Atkins L: Etiologic heterogeneity of neural-tube defects. N Engl J Med 294:365, 1976.PubMedGoogle Scholar
  99. 99.
    Poland BJ, Bailie DL: Cell ploidy in molar placental disease. Teratology 18:353, 1978.Google Scholar
  100. 100.
    Goldston AE, Burke EC, D’Agostin, McCaughey WTE: Neonatal polycystic kidney with brain defect. Am J Dis Child 106:484, 1963.PubMedGoogle Scholar
  101. 101.
    Miranda D, Schinella RA, Finegold MJ: Familial renal dysplasia. Arch Pathol 93:483, 1972.PubMedGoogle Scholar
  102. 102.
    Smith DW, Lemli L, Opitz JM: A newly recognized syndrome of multiple congenital anomalies. J Pediatr 64:210, 1964.PubMedGoogle Scholar
  103. 103.
    Kohler HG: Brief clinical report: familial neonatally lethal syndrome of hypoplastic left heart, absent pulmonary lobation, polydactyly, and talipes, probably Smith-Lemli-Opitz (RSH) Syndrome. Am J Med Genet 14:423, 1983.PubMedGoogle Scholar
  104. 104.
    Opitz JM, Zellweger H, Shannon WR, Ptacek LJ: The RSH syndrome. Birth Defects 5(2):43, 1969.Google Scholar
  105. 105.
    Cherstvoy ED, Lazjuk GI, Nedzved MK, Usoev SS: The pathological anatomy of the Smith-Lemli-Opitz syndrome. Clin Genet 7:382, 1975.PubMedGoogle Scholar
  106. 106.
    Dallaire L: Syndrome of retardation with urogenital and skeletal anomalies (Smith-Lemli-Opitz syndrome): clinical features and mode of inheritance. J Med Genet 6:113, 1969.PubMedGoogle Scholar
  107. 107.
    Fine RN, Gwinn JL, Young EF: Smith-Lemli-Opitz syndrome. Radiologic and postmortem findings. Am J Dis Child 115:483, 1968.PubMedGoogle Scholar
  108. 108.
    Robinson C, Perry L, Barlar A, Mella G: Smith-Lemli-Opitz syndrome and cardiovascular abnormality. Pediatrics 47:844, 1971.PubMedGoogle Scholar
  109. 109.
    Schumacher H: Das Smith-Lemli-Opitz Syndrom. Z Kinderheilk 105:88, 1969.PubMedGoogle Scholar
  110. 110.
    Srsen S: Smith-Lemli-Opitz syndrome: report of new case and review of the literature. Acta Pediatr Acad Sci Hung 13:301, 1972.Google Scholar
  111. 111.
    Bardet G: Sur un syndrome d’obesite infantile avec polydactylie et retinite pigmentaire. These Med (Paris) 4:79, 1920.Google Scholar
  112. 112.
    Blumel J, Kricker WT: Laurence-Moon-Bardet-Biedl syndrome: review of the literature and a report of five cases including a family group with three affected males. Tex Rep Biol Med 17:391, 1959.PubMedGoogle Scholar
  113. 113.
    McLoughlin TG, Shanklin DR: Pathology of Laurence-Moon-Bardet-Biedl syndrome. J Pathol Bact 93:65, 1967.Google Scholar
  114. 114.
    Jacobs PA, Angell RR, Buchanan IM, Hassold TJ, Matsuyama AM, Manuel B: The origin of human triploids. Ann Hum Genet 42:49, 1978.PubMedGoogle Scholar
  115. 115.
    Tieder M, Levy M, Gubler MC, Gagnadoux MF, Broyer M: Renal abnormalities in the Bardet-Biedl syndrome. Int J Pediatr Nephrol 3:199, 1982.PubMedGoogle Scholar
  116. 116.
    Cockayne EA: Dwarfism with retinal atrophy and deafness. Arch Dis Child 21:52, 1946.Google Scholar
  117. 117.
    Houston CS, Zaleski WA, Rozdilsky B: Identical male twins and brother with Cockayne syndrome. Am J Med Genet 13:311, 1982.Google Scholar
  118. 118.
    Ohno T, Hirooka M: Renal lesions in Cockayne’s syndrome. Tohoku J Exp Med 89:151, 1966.PubMedGoogle Scholar
  119. 119.
    Hernandez AL, Leon BD, Garcia S, Puente DL, Castillo YV: Lesiones renales ultraestructurales del syndrome de Cockayne. Rev Invest Clin 27:153, 1975.PubMedGoogle Scholar
  120. 120.
    Drash A, Sherman F, Hartmann WH, Blizzard RM: A syndrome of pseudohermaphroditism, Wilms’ tumor, hypertension, and degenerative renal disease. J Pediatr 76:585, 1970.PubMedGoogle Scholar
  121. 121.
    Manivel C, Dehner LP, Mauer SM, Sibley RK: Gonadal dysgenesis and nephropathy in childhood with Drash’s syndrome and without Wilms’ tumor. Abst Lab Invest 50:7P, 1984.Google Scholar
  122. 122.
    Fisher JE, Andres GA, Cooney DR, MacDonald M: A syndrome of pure gonadal dysgenesis: Gonadoblastoma, Wilms’ tumor and nephron disease. Abst Lab Invest 48:4P, 1983.Google Scholar
  123. 123.
    Johanson A, Blizzard R: A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption. J Peiatr 79:982, 1971.Google Scholar
  124. 124.
    Day DW, Israel JN: Johanson-Blizzard syndrome. Birth Defects 14(6B):275, 1978.PubMedGoogle Scholar
  125. 125.
    Morris MD, Fisher DA: Trypsinogen deficiency disease. Am J Dis Child 114:203, 1967.PubMedGoogle Scholar
  126. 126.
    Schussheim A, Choi SJ, Silverberg M: Exocrine pancreatic insufficiency with congenital anomalies. J Pediatr 89:782, 1976.PubMedGoogle Scholar
  127. 127.
    Townes PL, White MR: Identity of two syndromes. Proteolytic, lipolytic, and amylolytic deficiency of the exocrine pancreas with congenital abnormalities. Am J Dis Child 135:248, 1981.PubMedGoogle Scholar
  128. 128.
    Grand RJ, Rosen SW, di Sant’ Agnese PA, Kirkham WR: Unusual case of XXY Klinefelter’s syndrome with pancreatic insufficiency, hypothyroidism, deafness, chronic lung disease, dwarfism and microcephaly. Am J Med 41:478, 1966.PubMedGoogle Scholar
  129. 129.
    Daentl DL, Frias JL, Gilbert EF, Opitz JM: The Johanson-Blizzard syndrome: Case report and autopsy findings. Am J Med Genet 3:129, 1979.PubMedGoogle Scholar
  130. 130.
    Mardini MK, Ghandour M, Sakati NA, Nyhan WL: Johanson—Blizzard syndrome in a large inbred kindred with three involved members. Clin Genet 14:247, 1978.PubMedGoogle Scholar
  131. 131a.
    Gorlin RJ, Pindborg JJ, Cohen MM Jr: Syndromes of the Head and Neck, 2nd ed. New York: McGraw-Hill Book Co., 1976, pp. 125–127.Google Scholar
  132. 131b.
    Gorlin RJ, Pindborg JJ, Cohen MM Jr: Syndromes of the Head and Neck, 2nd ed. New York: McGraw-Hill Book Co., 1976, pp. 630–633.Google Scholar
  133. 132.
    Herrmann J, Opitz JM: Dermatoglyphic studies in a Rubinstein-Taybi patient, her unaffected dizygous twin sister and other relatives. Birth Defects 5(2):22, 1969.Google Scholar
  134. 133.
    Judge C: A sibship with the pseudothalidomide syndrome and an association with Rh incompatability. Med J Aust 2:280, 1973.PubMedGoogle Scholar
  135. 134.
    Lenz WD, Marquardt E, Weicker H: Pseudothalidomide syndrome. Birth Defects 10(5):97, 1974.Google Scholar
  136. 135.
    Herrmann J, Opitz JM: The SC phocomelia and the Roberts syndrome: Nosologie aspects. Eur J Pediatr 125:117, 1977.PubMedGoogle Scholar
  137. 136.
    McKusick VA: Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-linked Phenotypes, 6th ed. Baltimore and London: The Johns Hopkins University Press, 1983.Google Scholar
  138. 137.
    O’Brien HR, Mustard HS: An adult living case of total phocomelia. JAMA 77:1964, 1921.Google Scholar
  139. 138.
    Hall BD, Greenberg MH: Hypomelia-hypotrichosis-facial hemangioma syndrome. Am J Dis Child 123:602, 1972.PubMedGoogle Scholar
  140. 139.
    Levy M, Sacrez R, Luckel JC, Water S, Stoll CL, Szwarcberg R: Malformations graves des membres et Oligophrenie dans une famille (avec études chromosomiques). Ann Pediatr 19:313, 1982.Google Scholar
  141. 140a.
    Gorlin RJ, Pindborg JJ, Cohen MM Jr: Syndromes of the Head and Neck, 2nd ed. New York: McGraw-Hill Book Co., 1976, pp. 125–127.Google Scholar
  142. 140b.
    Gorlin RJ, Pindborg JJ, Cohen MM Jr: Syndromes of the Head and Neck, 2nd ed. New York: McGraw-Hill Book Co., 1976, 630–633.Google Scholar
  143. 141.
    Winter JSD, Kohn G, Mellman WJ, Wagner S: A familial syndrome of renal, genital, and middle ear anomalies. J Pediatr 72:88, 1968.PubMedGoogle Scholar
  144. 142.
    Davidson WM, Ross GIM: Bilateral absence of the kidneys and related congenital anomalies. J Pathol Bact 68:459, 1954.Google Scholar
  145. 143.
    Gruenwald P: The relation of the growing Müllerian duct to the Wolffian duct and its importance for the genesis of malformations. Anat Rec 81:1,Google Scholar
  146. 144.
    Turner G: A second family with renal, vaginal, and middle ear anomalies (letter). J Pediatr 76:641, 1968.Google Scholar
  147. 145.
    Gross H, Groh CH, Weippl G: Congenitale hypoplastische Trombopenie mit Radialplasie. Ein Syndrom multiapler Abartungen. Neue Oesterr Z Kindercheilk 1:574, 1956.Google Scholar
  148. 146.
    Hall JG, Levin J, Kuhn JP, Ottenheimer EJ, Van Berkum KAP, McKusick VA: Thrombocytopenia with absent radius (TAR). Medicine 48:411, 1969.PubMedGoogle Scholar
  149. 147.
    Salonen R, Herva R, Noria R: The hydrolethalus syndrome: delineation of a “new”, lethal malformation syndrome based on 28 patients. Clin Genet 19:321, 1981.PubMedGoogle Scholar
  150. 148.
    Taybi H, Rubinstein JH: Broad thumbs and toes, and unusual facial features. A probable mental retardation syndrome. Am J Roentgenol 93:362, 1965.Google Scholar
  151. 149.
    DeBuse PJ, Morris G: Bilateral pulmonary agenesis, esophageal atresia, and the first arch syndrome. Thorax 28:526, 1973.PubMedGoogle Scholar
  152. 150.
    Lubinsky M, Severn C, Rapoport JM: Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome. Am J Med Genet 14:461, 1983.PubMedGoogle Scholar
  153. 151.
    Fryns JP, Moerman F, Goddeeris P, Bossuyt C, van den Berghe H: A new lethal syndrome with cloudy corneae, diaphragmatic defects, and distal limb deformities. Hum Genet 50:65, 1979.PubMedGoogle Scholar
  154. 152.
    Goddeeris P, Fryns JP, van den Berghe H: Diaphragmatic defects, craniofacial dysmorphism, cleft palate and distal limb deformities: A new lethal syndrome. J Genet Hum 28:57, 1980.PubMedGoogle Scholar
  155. 153.
    Fitch N, Stolovita H, Robitaille Y, Guttman F: Absent left hemidiaphragm, arhinencephaly, and cardiac malformations. J Med Genet 15:399, 1978.PubMedGoogle Scholar
  156. 154.
    Papillon-Leage, Psaume J: Une malformation hereditaire de la muqueuse buccale: brides et freins anormaux. Rev Stomatol (Paris) 55:209, 1954.Google Scholar
  157. 155.
    Gorlin RJ, Psaume J: Orodigitofacial dysostosis—a new syndrome. J Pediatr 61:520, 1962.PubMedGoogle Scholar
  158. 156.
    Majewski F, Lenz W, Pfeiffer RA, Tünte W: Das oro-facio-digitale Syndrome. Symptome und Prognose. Z Kinderheilkd 112:89, 1972.PubMedGoogle Scholar
  159. 157.
    Whelan DT, Feldman W, Dost I: The oro-facial-digital syndrome. Clin Genet 8:205, 1975.PubMedGoogle Scholar
  160. 158.
    Doege TC, Thuline HC, Priest JH, Norby DE, Bryant JS: Studies of a family with the oral-facial-digital syndrome. N Engl J Med 271:1073, 1964.PubMedGoogle Scholar
  161. 159.
    Tucker CC, Finley SC, Tucker ES, Finley WH: Oral-facial-digital syndrome, with polycystic kidneys and liver: pathological and cytogenetic studies. J Med Genet 3:145, 1966.PubMedGoogle Scholar
  162. 160.
    Edelson PJ, Spackman TJ, Belliveau RE, Mahoney MJ: A renal lesion in asphyxiating thoracic dysplasia. Birth Defects 10(6):51, 1974.PubMedGoogle Scholar
  163. 161.
    Yang SS, Heidelberger KP, Brough AJ, Corbett DP, Bernstein J: Lethal short-limbed chondrodysplasia in early infancy. In: Bernstein J et al. (eds): Perspective in Pediatrie Pathology, Vol. 3. Chicago: Year Book Medical Publishers, 1976, pp. 1–40.Google Scholar
  164. 162.
    Gruskin A, Baluarte HJ, Cote ML, Elfenbein IB: The renal disease of thoracic asphyxiant dystrophy. Birth Defects 10(16):44, 1974.PubMedGoogle Scholar
  165. 163.
    Herdman RC, Langer LO: The thoracic asphyxiant dystrophy and renal disease. Am J Dis Child 116:192, 1968.PubMedGoogle Scholar
  166. 164.
    Spranger J, Grimm B, Weiler M, Weissenbacher G, Herrmann J, Gilbert EF, Krepier R: Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan. Z Kinderheilk 116:73, 1974.PubMedGoogle Scholar
  167. 165.
    Saldino RM, Noonan CD: Lethal short-limbed dwarfism: achondrogenesis and thanatophore dwarfism. Am J Roentgenol 112:185, 1971.Google Scholar
  168. 166.
    Somers GF: Thalidomide and congenital abnormalities. Lancet i:912, 1962.Google Scholar
  169. 167.
    Elejalde R, Giraldo C, Jimenez R, Gilbert EF: Acrocepalopholydactylous dysplasia. Birth Defects 13(3B):53, 1977.PubMedGoogle Scholar
  170. 168.
    Smith DW, Opitz JM, Inhorn SL: A syndrome of multiple developmental defects including polycystic kidneys and intrahepatic biliary dysgenesis. J Pediatr 67:617, 1965.PubMedGoogle Scholar
  171. 169.
    Opitz JM: Zellweger (Cerebrohepatorenal) syndrome. Genetic knowledge base project, Lister Hill Institute/NLM, 1984.Google Scholar
  172. 170.
    Bowen P, Lee CSN, Zellweger H, Lindenberg R: A familial syndrome of multiple congenital defects. Bull Johns Hopkins Hosp 114:402, 1964.PubMedGoogle Scholar
  173. 171.
    Opitz JM, ZuRhein GM, Vitale L, Shahidi NT, Howe JJ, Chou SM, Shanklin DR, Sybers HD, Dood AR, Gerritsen T: The Zellweger syndrome (cerebro-hepato-renal syndrome). Birth Defects 5(2):144, 1969.Google Scholar
  174. 172.
    Taylor JC, Zellweger H, Hanson JW: A new case of the Zellweger syndrome. Birth Defects 5(2):159, 1969.Google Scholar
  175. 173.
    Friedman A, Betzhold J, Hong R, Gilbert E, Viseskul C, Opitz JM: Clinicopathologic conference: A three-month-old infant with failure to thrive, hepatomegaly and neurological impairment. Am J Med Genet 7:171, 1980.PubMedGoogle Scholar
  176. 174.
    Versmold HT, Bremer HJ, Herzog V, Siegel G, von Bassewitz DB, Irle U, von Voss H, Lombeck I, Brauser B: A metabolic disorder similar to Zellweger syndrome with hepatic acatalasia and absence of peroxisomes, altered content and redox state of cytochromes, and infantile cirrhosis with hemosiderosis. Eur J Pediatr 124:261, 1977.PubMedGoogle Scholar
  177. 175.
    Vitale L, Opitz JM, Shahidi NT: Congenital and familial iron overload. N Engl J Med 280: 642, 1969.PubMedGoogle Scholar
  178. 176.
    Volpe JJ, Adams RD: Cerebro-hepato-renal syndrome of Zellweger: an inherited disorder of neuronal migration. Acta Neuropathol (Berl) 20:175, 1972.Google Scholar
  179. 177.
    Gilchrist KW, Gilbert EF, Goldfarb S, Goll U, Spranger JW, Opitz JM: Studies of malformation syndromes of man XIB. The cerebro-hepato-renal syndrome of Zellweger: comparative pathology. Eur J Pediatr 121:99, 1976.PubMedGoogle Scholar
  180. 178.
    Heymans HSA, Schutgens RBH, Tan R, van den Bosch H, Borst P: Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome). Nature 306:69, 1983.PubMedGoogle Scholar
  181. 179.
    Goldfischer S, Moore CL, Johnson AB, Spiro AJ, Valsamis MP, Wisniewski HK, Ritch RH, Norton WT, Rapin I, Gartner LM: Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome. Science 182:62, 1973.PubMedGoogle Scholar
  182. 180.
    Mathis RK, Watkins JB, Szczepanik-Van leeuween P, Lott IT: Liver in the cerebro-hepato-renal syndrome: Defective bile acid synthesis and abnormal mitochondria. Gastroenterology 79:1311, 1980.PubMedGoogle Scholar
  183. 181.
    Parmentier GG, Janssen GA, Eggermont EA, Eyssen HJ: C27 bile acids in infants with coprostanic acidemia and occurrence of a 3, 7, 12-trihydroxy-5-C29 dicarboxylic bile acid as a major component in their serum. Eur J Biochem 102:173, 1979.PubMedGoogle Scholar
  184. 182.
    Danks DM, Tippett P, Adams C, Campbell P: Cerebro-hepato-renal syndrome of Zellweger. A report of eight cases with comments upon the incidence, the liver lesion, and a fault of pipecolic acid metabolism. J Pediatr 86:382, 1975.PubMedGoogle Scholar
  185. 183.
    Trijbels JMF, Monnens LAH, Bakkeren JAJM, van Raay-Selton AHJ, Corstiaensen JMB: Biochemical studies in the cerebro-hepato-renal syndrome of Zellweger: A disturbance in the metabolism of pipecolic acid. J Inherited Metab dis 2:39, 1980.PubMedGoogle Scholar
  186. 184.
    Moser AE, Singh I, Brown FR, Solish GI, Kelley RI, Benke PJ, Moser HW: The cerebrohepatorenal (Zellweger) syndrome: increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis. N Engl J Med 310:1141, 1984.PubMedGoogle Scholar
  187. 185.
    Burton BK, Reed SP, Remy WT: Hyperpipecolic acidemia: Clinical and biochemical observations in two male siblings. J Pediatr 99:729, 1981.PubMedGoogle Scholar
  188. 186.
    Gatfìeld PD, Taller E, Hinton GG, Wallace AC, Adbelnour GM, Haust MD: Hyperpipecolatemia: a new metabolic disorder associated with neuropathy and hepatomegaly. Can Med Assoc J 99:1215, 1968.PubMedGoogle Scholar
  189. 187.
    Thomas GH, Haslam RHA, Batshaw ML, Capute AJ, Neidengard, Ransam JL: Hyperpipecolic acidemia associated with hepatomegaly, mental retardation, optic nerve dysplasia and progressive neurological disease. Clin Genet 8:376, 1975.PubMedGoogle Scholar
  190. 188.
    Disheiko G, Kew CM, Joffe BJ, Lewin JR, Path FF, Mantagos S, Tanaka K: Recurrent hypoglycemia associated with glutaric aciduria type II in an adult. N Engl J Med 301:1405, 1979.Google Scholar
  191. 189.
    Goodman SI, McCabe EFB, Fennessey PV, Mace JW: Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria; possible inherited deficiency of an electron transfer flavoprotein. Pediatr Res 14:12, 1980.PubMedGoogle Scholar
  192. 190.
    Goodman SI, Stene DO, McCabe ERB, Norenberg MD, Shikes RH, Stumpf DA, Blackburn GK: Glutaric acidemia type II: clinical, biochemical, and morphologic considerations. J Pediatr 100:946, 1982.PubMedGoogle Scholar
  193. 191.
    Gregersen N, Kolvraa S, Rasmussen K, Christensen E, Brand NJ, Ebbesen F, Hansen FH: Biochemical studies in a patient with defects in the metabolism of acyl-CoA and sarcosine: Another possible case of glutaric aciduria type II. J Inherited Metab Dis 3:67, 1980.PubMedGoogle Scholar
  194. 192.
    Lehnert W, Wendel U, Lindenmaier S, Böhm N: Multiple Acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two brothers. I. clinical, metabolical, and biochemical findings. Eur J Pediatr 139:56, 1982.PubMedGoogle Scholar
  195. 193.
    Mantogos S, Genel M, Tanaka K: Ethylmalonic-adipic aciduria. J Clin Invest 64:1580, 1979.Google Scholar
  196. 194.
    Przyrembel H, Wendel U, Becker K, Bremer HJ, Bruinvis L, Ketting D, Wadman SK: Glutaric aciduria type II: Report on a previously undescribed metabolic disorder. Clin Chim Acta 66:227, 1976.PubMedGoogle Scholar
  197. 195.
    Sweetman L, Nyhan WL, Trauner DA, Merritt TA, Singh M: Glutaric aciduria type II. J Pediatr 96:1020, 1980.PubMedGoogle Scholar
  198. 196.
    Böhm N, Uy J, Kiebling M, Lehnert W: Multiple acyl-CoA-dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia the cerbral cortex in two newborn brothers: II. Morphology and pathogenesis. Eur J Pediatr 139:60, 1982.PubMedGoogle Scholar
  199. 197.
    Hoganson G, Berlow S, Frerman F, Goodman S, Schweitzer L, Gilbert EF: Glutaric acidemia Type II and flavin-dependent enzymes in morphogenesis. In: Genetic Aspects of Developmental Pathology. New York: Alan R. Liss Inc., 1987, p. 65.Google Scholar
  200. 198.
    Goodman SI, Stene DO, McCabe ERB, Norenberg MD, Shikes RH, Stumpf DA, Blackburn GK: Glutaric acidemia type II: clinical, biochemical, and morphologic considerations. J Pediatr 100:946, 1982.PubMedGoogle Scholar
  201. 199.
    Jaffe R, Crumrine P, Hashida Y, Moser HW: Neonatal adrenoleukodystrophy. Clinical, pathologic and biochemical delineation of a syndrome affecting both males and females. Am J Pathol 108:100, 1982.PubMedGoogle Scholar
  202. 200.
    Kelley RI, Moser HW: Hyperpipecolic acidemia in neonatal adrenoleukodystrophy. In press.Google Scholar
  203. 201.
    Brown FR, McAdams AJ, Cummins JW, Konkol R, Singh I, Moser AB, Moser HW: Cerebro-hepato-renal (Zellweger) syndrome and neonatal adrenoleukodystrophy: Similarities in phenotype and accumulation of very long chain fatty acids. Johns Hopkins Med J 151:344, 1982.PubMedGoogle Scholar
  204. 202.
    Goldfischer S, Powers JM, Johnson AB, Axe S, Brown FR, Moser HW: Striated adrenocortical cells in cerebro-hepato-renal (Zellweger) syndrome. Virchows Arch [A] 401:355, 1983.Google Scholar
  205. 203.
    Allanson JE, Pantzar JT, MacLeod PM: 1983, Possible new autosomal recessive syndrome with unusual renal histopathological changes. Am J Med Genet 16:57–60, 1983.Google Scholar
  206. 204.
    Voland JR, Hawkings EP, Wells TR, Saunders B, Jones M, Benirschke k: Congenital hypernephronic nephromegaly with tubular dysgenesis: a distinctive inherited renal anomaly. Pediatr Pathol 4:231–245, 1985.PubMedGoogle Scholar
  207. 205.
    Schwartz BR, Lage JM, Pober BR, Driscoll SG: Isolated congenital renal tubular immaturity in siblings. Hum Pathol 17:1259–1263, 1987.Google Scholar
  208. 206.
    Swinford AE, Bernstein J, Higgins JV, Pradhan S: Confirmation of an autosomal recessive renal syndrome characterized by primitive renal tubules. Presented at 37th Annual Meeting of American Society of Medical Genetics, Philadelphia, Pennsylvania, November 2, 1986.Google Scholar
  209. 207.
    Lowe CU, Terrey M, MacLachland EA: Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation. Am J Dis Child 82:164, 1952.Google Scholar
  210. 208.
    Illig R, Dumermuth G, Prader A: Das oculocerebro-renale Syndrom (Lowe). Helv Paediatr Acta 18:173, 1963.PubMedGoogle Scholar
  211. 209.
    Richards W, Donnell GN, Wilson Wa, Stowens D, Perry T: The oculo-cerebro-renal syndrome of Lowe. Am J Dis Child 109:185, 1965.PubMedGoogle Scholar
  212. 210.
    Swyer GIM: Gonadal dysgenesis. Br Med J 1:1421, 1957.Google Scholar
  213. 211.
    Blanchet P, Daloze P, Lesage R, Papas S, Van Campenhout J: XY gonadal dysgenesis with gonadoblastoma discovered after kidney transplantation. Am J Obstet Gynecol 129:221, 1977.PubMedGoogle Scholar
  214. 212.
    Harkins PG, Haning RV Jr, Shapiro SS: Renal failure with XY gonadal dysgenesis: report of the second case. Obstet Gynecol 56:751, 1980.PubMedGoogle Scholar
  215. 213.
    Haning RV, Chesney RW, Moorthy AV, Gilbert EF: A syndrome of chronic renal failure and XY gonadal dysgenesis in young phenotypic females without genital ambiguity. Am J Kidney Dis 6:205, 1985.Google Scholar
  216. 214.
    Daentl DI, Townsted JJ, Siegel RC, Goodman JR, Fiel CF, Wara DW, Bachmann RP: Familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome: Clinical, structural and biochemical studies. Birth Defects 14(6B):315, 1978.PubMedGoogle Scholar
  217. 215.
    Goeminne L: A new probably X-linked inherited syndrome. Congenital muscular torticollis, multiple keloids, cryptorchidism and renal dysplasia. Acta Genet Med 17:439, 1967.Google Scholar
  218. 216.
    Kallmann FJ, Schoenfeld WA, Barrera SE: The genetic aspects of primary eunuchoidism. Am J Ment Defic 48:203, 1944.Google Scholar
  219. 217.
    Nowakowski H, Lenz W: Genetic aspects in male hypogonadism. Recent Prog Horm Res 17:53, 1961.PubMedGoogle Scholar
  220. 218.
    Sparkes RS, Simpson RW, Paulsen CA: Familial hypogonadotropic hypogonadism with anosmia. Arch Intern Med 21:534, 1968.Google Scholar
  221. 219.
    Naftolin F, Harris GW, Bobrow M: Effect of purified luteinizing hormone releasing factor on normal and hypogonadotrophic anosmic men. Nature 232:496, 1971.PubMedGoogle Scholar
  222. 220.
    Turner RC, Bobrow M, Bobrow LG, MacKinnon PCB, Bonnar J, Hockaday TDR, Ellis JD: Crytorchidism in a family with Kallmann’s syndrome. Proc R Soc Med 67:33, 1974.PubMedGoogle Scholar
  223. 221.
    Wegenke JD, Uehling DT, Wear JB Jr, Gordon ES, Bargman JG, Deacon JSR, Herrmann JPR, Opitz JM: Familial Kallmann syndrome with unilateral renal aplasia. Clin Genet 7:368, 1975.PubMedGoogle Scholar
  224. 222.
    Leutenegger M, Poynard JP, Gross A, Ricard Y: Forme familiale de syndrome de De Morsier-Kallmann. Nouv Presse Med 10:909, 1981.PubMedGoogle Scholar
  225. 223.
    Hockaday TDR: Hypogonadism and life-long anosmia. Postgrad Med J 42:572, 1966.PubMedGoogle Scholar
  226. 224.
    Merriam GR, Beitins IZ, Bode HH: Father-to-son transmission of hypogonadism with anosmia. Am J Dis Child 131:1216, 1977.PubMedGoogle Scholar
  227. 225.
    Santen RJ, Paulsen CA: Hypogonadotropic eunuchoidism. I. Clinical study of the mode of inheritance. J Clin Endocrinol Metab 36:47, 1973.PubMedGoogle Scholar
  228. 226.
    Schroffner WG, Furth ED: Hypogonadotropic hypogonadism with anosmia (Kallmann’s syndrome) unresponsive to clomiphene citrate. J Clin Endocrinol Metab 31:267, 1970.PubMedGoogle Scholar
  229. 227.
    Christian JC, Bixler D, Dexter RN, Donahue JP: Hypogonadotropic hypogonadism with anosmia: The Kallmann syndrome. Birth Defect 7(6):166, 1971.Google Scholar
  230. 228.
    Dornan J, Barnard JM, Farid NR: Lack of close linkage of hypogonadotropic hypogonadism with HLA. Tissue Antigens 15:510, 1980.PubMedGoogle Scholar
  231. 229.
    Males JL, Townsend JL, Schneider RA: Hypogonadotropic hypogonadism with anosmia— Kallmann’s syndrome. Arch Intern Med 131:501, 1973.PubMedGoogle Scholar
  232. 230.
    Tomita M: Consecutive administration of synthetic LRH In the evaluation of gonadotrophin reserve in children. Acta Endocrinol 94:289, 1980.PubMedGoogle Scholar
  233. 231.
    Turksoy RN: Dissocation of prolactin responsiveness to thyrotropin-releasing hormone and chlorpromazine in a female with Kallmann’s syndrome. Fertil Steril 32:228, 1979.PubMedGoogle Scholar
  234. 232.
    White BJ, Rogol AD, Brown KS, Lieblih JM, Rosen SW: The syndrome of anosmia with hypogonadotropic hypogonadism: A genetic study of 18 new families and a review. Am J Med Genet 15:417, 1983.PubMedGoogle Scholar
  235. 233.
    Swanson SL, Santen RJ, Smith DW: Multiple lentigines syndrome: new findings of hypogonadotrophism, hyposomia, and unilateral renal agenesis. J Pediatr 78:1037, 1971.PubMedGoogle Scholar
  236. 234.
    Gorlin RJ, Jue KL, Jacobsen U, Goldschmidt E: Oculoauriculovertebral dysplasia. J Pediatr 63:991, 1963.PubMedGoogle Scholar
  237. 235.
    Opitz JM, Faith GC: Visceral anomalies in an infant with the Goldenhar syndrome. Birth Defects 5(2): 104, 1969.Google Scholar
  238. 236.
    Gross W: Ein Fall von Agenesis der linken Lunge. Beitr Path Anat 37:487, 1905.Google Scholar
  239. 237.
    Caramia G, Di Battista C, Botticelli A: La sindrome di Goldenhar. Descrizione di un caso con malformzioni cardiovascolari, agenesia del polmone destro e situs viscerum inversus. Minerva Pediat 22:362, 1976.Google Scholar
  240. 238.
    Klippel M, Trenaunay P: Du naevus variquex osteo-hypertrophique. Arch Gen Med 185:641, 1900.Google Scholar
  241. 239.
    Parkes-Weber F: Angioma formation in connection with hypertrophy of limbs and hemihypertrophy. Br J Dermatol 19:231, 1907.Google Scholar
  242. 240.
    Cole BR, Kaufman RL, McAlister WH, Kissane JM: Bilateral renal dysplasia in three siblings: Report of a survivor. Clin Nephrol 5:83–87, 1976.PubMedGoogle Scholar
  243. 241.
    Rissier HL Jr: Hemangiomatosis of the intestine. Gastroenterologia 93:357, 1960.PubMedGoogle Scholar
  244. 242.
    Kuffer FR, Starzynsky TE, Girolami A, Murphy L, Grabstald H: Klippel-Trenaunay syndrome, visceral angiomatosis and thrombocytopenia. J Pediatr Surg 3:65, 1968.Google Scholar
  245. 243.
    Kasabach HH, Merritt KK: Capillary hemangioma with extensive purpura. Am J Dis Child 59:1063, 1940.Google Scholar
  246. 244.
    Mankad VN, Gray GF, Miller DR: Bilateral nephroblastomatosis and Klippel-Trenaunay Syndrom. Cancer 33:1462, 1974.PubMedGoogle Scholar
  247. 245.
    Wiedmann HR: Complexe malformatif familial avec hernie ombilicale et macroglossie—“un Syndrom nouveau”. J Genet Hum 13:223, 1964.Google Scholar
  248. 246.
    Beckwith JB: Macroglossia, omphalocele, adrenal cytomegaly, gigantism, and hyperplastic visceromegaly. Birth Defects 5(2): 188, 1969.Google Scholar
  249. 247.
    Kosseff AL, Herrmann J, Gilbert EF, Viseskul C, Lubinsky M, Opitz JM: Studies of malformation syndromes of man XXIX: the Wiedemann-Beckwith syndrome. Clinical, genetic and pathogenic studies of 12 cases. Eur J Pediatr 123:139, 1976.PubMedGoogle Scholar
  250. 248.
    Jones KL, Smith DW: Recognition of the fetal alcohol syndrome in early infancy. Lancet ii:999, 1973.Google Scholar
  251. 249.
    Williams JCP, Barratt-Boyes BG, Lowe JB: Supravalvular aortic stenosis. Circulation 24:1311, 1961.PubMedGoogle Scholar
  252. 250.
    Babbitt DP, Dobbs J, Boedecker RA: Multiple bladder diverticula in Williams “elfin-facies” syndrome. Pediatr Radiol 8:29, 1979.PubMedGoogle Scholar
  253. 251.
    Friedman WF: Vitamin D as a cause of the supravalvular aortic stenosis syndrome. Am Heart J 73:718, 1967.PubMedGoogle Scholar
  254. 252.
    Friedman WF, Mills LF: The relationship between vitamin D and the craniofacial and dental anomalies of the supravalvular aortic stenosis syndrome. Pediatrics 43:12, 1969.PubMedGoogle Scholar
  255. 253.
    Friedman WF, Roberts WC: Vitamin D and the supravalvular aortic stenosis syndrome: The transplacental effects of vitamin D on the aorta of the rabbit. Circulation 19:77, 1966.Google Scholar
  256. 254.
    White RA, Preus M, Watters GV, Fraser FC: Familial occurence of the Williams syndrome. J Pediatr 91:614, 1977.PubMedGoogle Scholar
  257. 255.
    Rubinstein JH, Taybi H: Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. Am J Dis Child 105:588, 1963.PubMedGoogle Scholar
  258. 256.
    Job JC, Rossier A, de Grandprey J: Études sur les nanismes constitutionnels. II. Le syndrome de Rubinstein et Taybi. Ann Pediatr 11:646, 1964.Google Scholar
  259. 257.
    Roy FH, Summitt RL, Hiatt RL, Hughes JG: Ocular manifestations of the Rubinstein-Taybi syndrome: case report and review of the literature. Arch Ophthalmol 79:272, 1968.PubMedGoogle Scholar
  260. 258.
    Taybi H, Rubinstein JH: Broad thumbs and toes, and unusual facial features. A probable mental retardation syndrome. Am J Roentgenol 93:362, 1965.Google Scholar
  261. 259.
    Coffin GS: Brachydactyly, peculiar facies and mental retardation. Am J Dis Child 108:351, 1964.PubMedGoogle Scholar
  262. 260.
    Principi N: Su un caso di sindrome di Rubinstein e Taybi. Minerva Pediatr 18:1037, 1966.PubMedGoogle Scholar
  263. 261.
    Latuff H, Yamin G, Quintero LD: Alteraciones de los dedos de manos y pies, anomalias faciales y retardo mental. Biol Hosp de Ninos 6:195, 1964.Google Scholar
  264. 262.
    Salmon MA: The Rubinstein-Taybi syndrome: a report of two cases. Arch Dis Child 43:102, 1968.PubMedGoogle Scholar
  265. 263.
    Johnson CF: Broad thumbs and broad great toes with facial abnormalities and mental retardation. J Pediatr 68:942, 1966.PubMedGoogle Scholar
  266. 264.
    Rubinstein JH: The broad thumbs syndrome—progress report 1968. Birth Defects 5(2):25, 1969.Google Scholar
  267. 265.
    Herrmann J, Opitz JM: Dermatoglyphic studies in a Rubinstein-Taybi patient, her unaffected dizygous twin sister and other relatives. Birth Defects 5(2):22, 1969.Google Scholar
  268. 266.
    Silver HK, Kiyasu W, George J, Deamer WC: Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins. Pediatrics 12:368, 1953.PubMedGoogle Scholar
  269. 267.
    Russell A: A syndrome of “intrauterine” dwarfism recognizable at birth with craniofacial dysostosis, disproportionate short arms, and other anomalies (5 cases). Proc Roy Soc Med 47:1040, 1954.PubMedGoogle Scholar
  270. 268.
    Haslam RHA, Berman W, Heller RM: Renal abnormalities in the Russell-Silver syndrome. Pediatrics 51:216, 1973.PubMedGoogle Scholar
  271. 269.
    Lattimer JK: Congenital deficiency of abdominal musculature and associated genitourinary anomalies. J Urol 79:343, 1958.PubMedGoogle Scholar
  272. 270.
    Silverman FN, Huang N: Congenital absence of the abdominal muscles. Am J Dis Child 80:91, 1950.PubMedGoogle Scholar
  273. 271.
    Stumme EG: Ueber die symmetrischen kongenitalen Bauchmuskeldefekte und über die Kombination derselben mit anderen Bildungsanomalien des Rumpfes. Mit Grenzgebiete Med Chir 6:548, 1903.Google Scholar
  274. 272.
    Pagon RA, Smith DW, Shepard TH: Urethral obstruction malformation complex: A cause of abdominal muscle deficiency and the ‘prune belly’. J Pediatr 94:900, 1979.PubMedGoogle Scholar
  275. 273.
    Parker RW: Absence of abdominal muscles in an infant. Lancet i:1252, 1985.Google Scholar
  276. 274.
    Eagle JF, Barrett GS: Congenital deficiency of abdominal musculature with associated genitourinary abnormalities: A syndrome: report of nine cases. Pediatrics 6:721, 1950.PubMedGoogle Scholar
  277. 275.
    Burton BK, Dillard RG: Brief clinical report: prune belly syndrome: observations supporting the hypothesis of abdominal overdistention. Am J Med Genet 17:669, 1984.PubMedGoogle Scholar
  278. 276.
    Palmer JM, Tesluk H: Ureteral pathology in the prune belly syndrome. J Urol (Baltimore) 111:701, 1974.Google Scholar
  279. 277.
    Cremin BJ: The urinary tract anomalies associated with agenesis of the abdominal wall. Br J Radiol 44:767, 1971.PubMedGoogle Scholar
  280. 278.
    Uehling DT, Gilbert EF, Chesney RW: Urologic implications of the VATER association. J Urol 129:352, 1983.PubMedGoogle Scholar
  281. 279.
    McLoughlin TG, Shanklin DR: Pathology of Laurence-Moon-Bardet-Biedl syndrome. J Pathol Bact 93:65, 1967.Google Scholar
  282. 280.
    Potter EL: Bilateral renal agenesis. J Pediatr 29:68, 1946.PubMedGoogle Scholar
  283. 281.
    Thomas IT, Smith DW: Oligohydramnios, cause of the non-renal features of Potter’s syndrome, including pulmonary hypoplasia. J Pediatr 84:811, 1974.PubMedGoogle Scholar
  284. 282.
    Quan L, Smith DW: The VATER association: vertebral defects and atresia, tracheoesophageal fistula with esophageal atresia, radial dysplasia. Birth Defects 8(2):75, 1972.Google Scholar
  285. 283.
    Evans JA, Reggin J, Greenberg C: Tracheal agenesis and associated malformations: A comparison with tracheoesophageal fistula and the VACTERL association. Am J Med Genet, in press.Google Scholar
  286. 284.
    Lubinsky M: Invited editorial comment—associations in clinical genetics with a comment on the paper by Evans et al. on tracheal agenesis. Am J Med Genet 21:35, 1985.Google Scholar
  287. 285.
    Duncan PA, Shapiro LR: MURCS and VATER associations: Vertebral and genitourinary malformations with distinct embryologic pathogenetic mechanisms. Abst Teratology 19:24A, 1979.Google Scholar
  288. 286.
    Duncan PA, Shapiro LR: Sirenomelia, the VATER association and facial assymetry: interrelated disorders. Teratology 23:33A, 1981.Google Scholar
  289. 287.
    Evans JA: Numerical taxonomy in the study of birth defects. In: Persaud TVN (ed): Advances in the Study of Birth Defects Vol. 5. Genetic Disorders, Syndromology and Prenatal Diagnosis. Lancaster: MTP Press Ltd, 1982.Google Scholar
  290. 288.
    Russell LJ, Weaver DD, Bull MJ: The axial mesodermal dysplasia spectrum. Pediatrics 67:176, 1981.PubMedGoogle Scholar
  291. 289.
    Lubinsky M, Severn C, Rapoport JM: Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome. Am J Med Genet 14:461, 1983.PubMedGoogle Scholar
  292. 290.
    Fuhrmann W: A new polydactyly/imperforate anus/vertebral-anomalies syndrome. Lancet ii:918, 1968.Google Scholar
  293. 291.
    Say D, Baici S, Pirnar T, Hicsonnez A: Imperforate anus/polydactyly/vertebral anomalies syndrome: a hereditary trait? (Letter to the editor.) J Pediatr 79:1033, 1971.PubMedGoogle Scholar
  294. 292.
    Duncan PA: Embryologic pathogenesis of renal agenesis associated with cervical vertebral anomalies (Klippel-Feil phenotype). Birth Defects 13(3D):91, 1977.PubMedGoogle Scholar
  295. 293.
    Duncan PA, Shapiro LR, Stangel JJ, Klein RM, Addonizio JD: The MURCS association: Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia. J Pediatr 95:399, 1979.PubMedGoogle Scholar
  296. 294.
    Griffin JE, Edwards C, Madden JD, Harrod MJ, Wilson JD: Congenital absence of the vagina. Ann Intern Med 85:224, 1976.PubMedGoogle Scholar
  297. 295.
    Kanner A, Wolf P, Jones KL, Robinson L, Volano J: CHARGE association presenting as Trisomy 18. Lab Invest 50:6P, 1984.Google Scholar
  298. 296.
    Hall BD: Choanal atresia and associated multiple anomalies. J Pediatr 95:395, 1979.PubMedGoogle Scholar
  299. 297.
    Hittner HM, Riccardi VM, Francke U: Aniridia caused by a heritable chromosome 11 deletion. Ophthalmology 86:1173, 1979.PubMedGoogle Scholar
  300. 298.
    Pagon RA, Graham JM Jr, Zonana J, Yong S: Charge association: Coloboma, congenital heart disease, and choanal atresia with multiple anomalies. J Pediatr 99:223, 1981.PubMedGoogle Scholar
  301. 299.
    Czeizel A: Schisis-association. Am J Med Genet 10:25, 1981.PubMedGoogle Scholar
  302. 300.
    Opitz JM, Gilbert EF: Pathogenetic analysis of congenital anomalies in humans. In: Ioachim HL (ed): Pathobiology Annual. New York: Raven Press 1982, pp. 301–349.Google Scholar
  303. 301.
    Josephson K: The G syndrome revisited. Master of Science (Medical Genetics) Thesis, University of Wisconsin, 1981.Google Scholar
  304. 302.
    Gilbert EF, Opitz JM: Developmental and other pathologic changes in syndromes caused by chromosome abnormalities. In: Rosenberg HS, Bernstein J (eds): Perspectives in Pediatric Pathology, Vol. 7. New York: Masson Publ., 1982.Google Scholar
  305. 303.
    Opitz JM: Developmental analysis of human congenital anomalies. In: Skeletal Dysplasias. New York: Alan R. Liss, 1982, pp. 15–43.Google Scholar
  306. 304.
    Opitz JM: The developmental field concept in clinical genetics. J Pediatr 101:805, 1982.PubMedGoogle Scholar
  307. 305.
    Opitz JM: What the general pediatrician should know about human anomalies. Pediatr Rev 3(9):267, 1982.Google Scholar
  308. 306.
    Lemoine P, Harrousseau H, Borteyru JP, Menuet JC: Les enfants de parents alcoholiques. Ouest Med 21:476, 1968.Google Scholar
  309. 307.
    Smith DW: The fetal alcohol syndrome. Hosp Pract [off] 10:121, 1979.Google Scholar
  310. 308.
    Herrmann J, Pallister PD, Opitz JM: Tetraectrodactyly and other skeletal manifestations in the fetal alcohol syndrome. Eur J Pediatr 133:211, 1980.Google Scholar
  311. 309.
    Jones KL, Smith DW, Streissguth AP, Myrianthopoulous NC: Outcome in offspring of chronic alcoholic women. Lancet i:1076, 1974.Google Scholar
  312. 310.
    Jones KL, Smith DW, Ulleland CN, Streissguth AP: Pattern of malformation in offspring of chronic alcholic mothers. Lancet i:1267, 1973.Google Scholar
  313. 311.
    Majewski F, Bierich JR, Löser H, Michaelis R, Leiber B, Bettecken F: Zur Klinik und Pathogenese der Alkohol-Embryopathie. Bericht über 68 Fälle. Münch Med Wochenschr 118:1635, 1976.Google Scholar
  314. 312.
    Olegard R, Sabel KG, Aronsson M, Sandin B, Johansson PR, Carlsson C, Kyllerman M, Iversen K, Hrbek A: Effects on the child of alcohol abuse during pregnancy. Acta Paediatr Scand Suppl 275:112, 1979.PubMedGoogle Scholar
  315. 313.
    Clarren SK, Smith DW: The fetal alcohol syndrome. N Engl J Med 298:1063, 1978.PubMedGoogle Scholar
  316. 314.
    Comess LJ, Bennett PH, Man MB, Burch TA, Miller M: Congenital anomalies and diabetes in the Pirna Indians of Arizona. Diabetes 18:471, 1967.Google Scholar
  317. 315.
    Haust MD: Maternal diabetes mellitus—Effects on the fetus and placenta in perinatal disease. In: Naeye RL, Kissane JM, Kaufman N (eds): Int’l Acad of Pathology Monograph. Baltimore: Williams and Wilkins, 1981, pp. 201–285.Google Scholar
  318. 316.
    Krous HF, Richie JP, Sellers B: Glomerulocystic kidney: A hypothesis of origin and pathogenesis. Arch Pathol Lab Med 101:462, 1977.PubMedGoogle Scholar
  319. 317.
    Kucera J, Lenz W, Maier W: Missbildungen der Beine und der kaudalen Wirbelsäule bei Kindern diabetischer Mütter. Dtsch Med Wochenschr 90:901, 1965.PubMedGoogle Scholar
  320. 318.
    Passarge E: Congenital malformations and maternal diabetes. Lancet i:324, 1965.Google Scholar
  321. 319.
    Rusnak SL, Driscoll SG: Congenital spinal anomalies in infants of diabetic mothers. Pediatrics 35:989, 1965.PubMedGoogle Scholar
  322. 320.
    Stehbens JA, Baker GL, Kitchell M: Outcome at ages 1, 3, and 5 years of children born to diabetic women. Am J Obstet Gynecol 127:408, 1977.PubMedGoogle Scholar
  323. 321.
    Crawfurd MDA, Ismail SR, Wigglesworth JS: A monopodal sireniform monster with dermatoglyphic and cytogenetic studies. J Med Genet 3:212, 1966.PubMedGoogle Scholar
  324. 322.
    Duhamel B: From the mermaid to anal imperforation: the syndrome of caudal regression. Arch Dis Child 36:152, 1961.PubMedGoogle Scholar
  325. 323.
    Wolff E: Les bases de la teratogenese experiemntale des vertebres amniotes, d’après les resultats de methodes directes. Arch Anat Histol Embryol (Strasb) 22:1, 1936.Google Scholar
  326. 324.
    Becker MH, Genieser MB, Finegold M, Miranda D, Spackman T: Chondrodysplasia punctata. Is maternal warfarin a factor? Am J Dis Child 129:356, 1975.PubMedGoogle Scholar
  327. 325.
    Hall JG: Embryopathy associated with oral anticoagulant therapy. Birth Defects 12(5):33, 1965.Google Scholar
  328. 326.
    Pettifor JM, Benson R: Congenital malformations associated with the administration of oral anticoagulants during pregnancy. J Pediatr 86:459, 1975.PubMedGoogle Scholar
  329. 327.
    Shaul WL, Emery H, Hall JG: Chondrodysplasia punctata and maternal warfarin use during pregnancy. Am J Dis Child 129:360, 1975.PubMedGoogle Scholar
  330. 328.
    Shaul WL, Hall JG: Multiple congenital anomalies associated with oral anticoagulants. Am J Obstet Gynecol 127:191, 1977.PubMedGoogle Scholar
  331. 329.
    Warkany J: A warfarin embryopathy? Am J Dis Child 129:287, 1975.PubMedGoogle Scholar
  332. 330.
    Warkany J, Bofinger M: Le role de la Coumadine dans les malformations congenitales. Med Hyg 33:1454, 1975.Google Scholar
  333. 331.
    Hall JG, Pauli RM, Wilson KM: Maternal and fetal sequelae of anticoagulation during pregnancy. Am J Med 68:122, 1980.PubMedGoogle Scholar
  334. 332.
    Lutz DJ, Noller KL, Spittell JA, et al.: Pregnancy and its complications following cardiac valve prosthesis. Submitted.Google Scholar
  335. 333.
    Lenz W: Diskussionsbemekung zu dem Vortrag von R.A. Pfeiffer und K.Kosenow: Zur Frage der exogenen Entstehung schwerer Extremitätenmissbildungen, Tagung der Rheinisch-Westfalischen Kinderärztevereinigung. In Düsseldorf 19:11, 1961.Google Scholar
  336. 334.
    McBride WG: Thalidomide and congenital abnormalities. Lancet ii:1358, 1961.Google Scholar
  337. 335.
    Nowack E: Die sensible phase bei der Thalidomid-Embryopathie. Humangenetik 1:516, 1965.PubMedGoogle Scholar
  338. 336.
    Sommer A, Contras SG, Graenen JM, Hosier DM: A family study of the Leopard syndrome. Am J Dis Child 121:520, 1971.PubMedGoogle Scholar
  339. 337.
    Delahunt CS, Lassen LJ: Thalidomide syndrome in monkeys. Science 146:1300, 1964.PubMedGoogle Scholar
  340. 338.
    Wilson JG, Gavan JA: Congenital malformations in nonhuman primates: Spontaneous and experimentally induced. Anat Rec 158:99, 1967.PubMedGoogle Scholar
  341. 339.
    Lenz W: Malformations caused by drugs in pregnancy. Am J Dis Child 112:99, 1966.PubMedGoogle Scholar
  342. 340.
    Weicker H: 100 children with thalidomide embryopathy. Presented at XIth International Congress of Pediatrics, 1965.Google Scholar
  343. 341.
    Smithells RW: Drugs and human malformations. In: Woolam DHM (ed): Advances in Teratology. New York: Academic Press, 1966.Google Scholar
  344. 342.
    Hauke H, Weicker H: Thalidomid-Embryopathie: V. die nierenfehlbildungen. Deutsche Med Wschnschr 90:2200, 1965.Google Scholar
  345. 343.
    Kreipe U: Missbildungen innerer Organe bei Thalidomid-Embryopathie. Arch Minderh 176:33, 1967.Google Scholar
  346. 344.
    Lenz W: Das Thalidomid-Syndrom. Fortschr Med 81:148, 1963.Google Scholar
  347. 345.
    Weiss L: Additional evidence of gradual loss of germ cells in the pathogenesis of streak ovaries in Turner’s syndrome. J Med Genet 8:540, 1972.Google Scholar
  348. 346.
    McCredie J: Thalidomide and congenital Charcot joints. Lancet ii:1058, 1973.Google Scholar
  349. 347.
    McCredie J: Embryonic neuropathy. A hypothesis of neural crest injury as he pathogenesis of congenital malformations. Med J Aust 1:159, 1974.PubMedGoogle Scholar
  350. 348.
    McCredie J: Congenital fusion of bones: radiology, embryology and pathogenesis. Clin Radiol 26:47, 1975.PubMedGoogle Scholar
  351. 349.
    McCredie J: The action of thalidomide on the peripheral nervous system of the embryo. Proc Aust Assoc Neurol 12:135, 1975.PubMedGoogle Scholar
  352. 350.
    McCredie J: Segmental embryonic peripheral neuropathy. Pediatr Radiol 3:162, 1975.PubMedGoogle Scholar
  353. 351.
    McCredie J: Neural crest defects. A neuroanatomic basis for classification of multiple malformations related to focomelia. J Neurol Sci 28:373, 1976.PubMedGoogle Scholar
  354. 352.
    McCredie J, McBride WG: Some congenital abnormalities possibly due to embryonic peripheral neuropathy. Clin Radiol 24:204, 1973.PubMedGoogle Scholar
  355. 353.
    Özer FL: Kidney malformations in mongolism. Birth Defects 10(4):189, 1974.Google Scholar
  356. 354.
    Berg JM, Crome L, France NE: Congenital cardiac malformations in mongolism. Br Heart J 22:331–346, 1960.PubMedGoogle Scholar
  357. 355.
    Rissane JM: Congenital anomalies. In: Pathology of Infancy and Childhood, 2nd ed. St. Louis: C.V. Mosby, 1975, pp. 577.Google Scholar
  358. 356.
    Benda CA: The Child with Mongolism (Congenital Acromicria). New York: Grune and Stratton, 1960.Google Scholar
  359. 357.
    Bersu ET: Anatomical analysis of the developmental effects of aneuploidy in man: The Down syndrome. Am J Med Genet 5:399, 1980.PubMedGoogle Scholar
  360. 358.
    Butler LJ, Snodgrass GJAI, France NE, Sinclair I, Russel A: E (16–18) trisomy syndrome. Analysis of 13 cases. Arch Dis Child 40:600–611, 1965.PubMedGoogle Scholar
  361. 359.
    Egli F, Stalder G: Malformations of kidney and urinary tract in common chromosomal aberrations. I. Clinical studies. Humangenetik 18:1–15, 1973.PubMedGoogle Scholar
  362. 360.
    Warkany J, Passarge E, Smith LB: Congenital malformations in autosomal trisomy syndromes. Am J Dis Child 112:502, 1966.PubMedGoogle Scholar
  363. 361.
    Berry PJ: Congenital tumors. IN: Keeling JW (ed): Fetal and Neonatal Pathology. New York: Springer Verlag, 1987, p. 239.Google Scholar
  364. 362.
    Uchida IA, Bowman JM, Wang HC: The 18-trisomy syndrome. N Engl J Med 266:1198, 1962.PubMedGoogle Scholar
  365. 363.
    Bove KE, Koffler H, McAdams AJ: Nodular renal blastema. Definition and possible significance. Cancer 24:323, 1969.PubMedGoogle Scholar
  366. 364.
    Pettersen JC: Anatomical studies of a boy trisomic for the distal portion of 13q. Am J Med Genet 4:383, 1979.PubMedGoogle Scholar
  367. 365.
    Pettersen JC, Koltis GG, and White MJ: An examination of the spectrum of anatomic defects and variations found in eight cases of trisomy 13. Am J Med Genet 3:183, 1979.PubMedGoogle Scholar
  368. 366.
    Mottet NK, Jensen H: The anomalous embryonic development associated with trisomy 13–15. Am J Clin Pathol 43:334, 1965.PubMedGoogle Scholar
  369. 367.
    Baxter TJ: Cysts arising in the renal tubules: a microdissection study. Arch Dis Child 40:464, 1965.PubMedGoogle Scholar
  370. 368.
    Karayalcin G, Shanske A, Honigman R: Wilms’ tumor in a 13-year-old girl with Trisomy 18. Am J Dis Child 135:665, 1981.PubMedGoogle Scholar
  371. 369.
    Townes PL, Dehart GK Jr, Hecht F, Manning JA: Trisomy 13–15 in a male infant. J Pediatr 60:528, 1962.PubMedGoogle Scholar
  372. 370.
    Patau K, Smith DW, Therman E, Inhorn SL, Wagner HP: Multiple congenital anomaly caused by extra autosome. Lancet i:790, 1960.Google Scholar
  373. 371.
    Bartman J, Barracough G: Cystic dysplasia of the kidneys studied by microdissection in a case of 13–15 trisomy. J Pathol Bact 89:233, 1965.Google Scholar
  374. 372.
    Smith DW, Patau K, Therman E, Inhorn SL, DeMars RI: The 13–15 trisomy syndrome. J Pediatr 62:326, 1963.PubMedGoogle Scholar
  375. 373.
    Casperson T, Lindsten J, Zech L, Buckton KE, Price WH: Four patients with trisomy 8 identified by the fluorescence and Giemsa banding techniques. J Med Genet 9:1, 1972.Google Scholar
  376. 374.
    Crandall BF, Bass HN, Marcy SM: The trisomy 8 syndrome: two additional mosaic cases. J Med Genet 11:393, 1974.PubMedGoogle Scholar
  377. 375.
    Riccardi VM: Trisomy 8: an international study of 70 patients. Birth Defects 13(3C):171, 1977.PubMedGoogle Scholar
  378. 376.
    Walravens PA, Greensher A, Sparks JW, Wesenberg RL: Trisomy 8 mosaicism. Am J Dis Child 128:564, 1974.PubMedGoogle Scholar
  379. 377.
    Kosztolanyi G, Bühler EM, Elmiger P, Stalder GR: Trisomy 8 mosaicism. A case report and a proposed list of clinical features. Eur J Pediatr 123:293, 1976.PubMedGoogle Scholar
  380. 378.
    Riccardi V, Atkins L, Holmes LB: Absent patellae, mild mental retardation, skeletal and genitourinary anomalies, and group C autosomal mosaicism. J Pediatr 77:664, 1970.PubMedGoogle Scholar
  381. 379.
    Juberg RC, Gilbert EF, Salisbury RS: Trisomy C in an infant with polycystic kidneys and other malformations. J Pediatr 76:598, 1970.PubMedGoogle Scholar
  382. 380.
    Blair JD: Trisomy C and cystic dysplasia of kidneys, liver and pancreas. Birth Defects 12(5):139, 1976.PubMedGoogle Scholar
  383. 381.
    Feingold M, Atkins L: A case of trisomy 9. J Med Genet 10:184, 1973.PubMedGoogle Scholar
  384. 382.
    Francke U: Personal communication.Google Scholar
  385. 383.
    Francke U, Benirschke K, Jones OW: Prenatal diagnosis of trisomy 9. Humangenetik 29:243, 1975.PubMedGoogle Scholar
  386. 384.
    Mantagos S, McReynolds JW, Seashore MR, Berg WR: Complete trisomy 9 in two liveborn infants. J Med Genet 18:377, 1981.PubMedGoogle Scholar
  387. 385.
    Haslam RHA, Broske SP, Moore CM, Thomas GH, Neill CA: Trisomy 9 mosaicism with multiple congenital anomalies. J Med Genet 10:180, 1973.PubMedGoogle Scholar
  388. 386.
    Bowen P, Ying KL, Chung GSH: Trisomy 9 mosaicism in a newborn infant with multiple malformations. J Pediatr 85:95, 1974.PubMedGoogle Scholar
  389. 387.
    Niebuhr E: Triploidy in man: Cytogenetical and clinical aspects. Humangenetik 21:103, 1974.PubMedGoogle Scholar
  390. 388.
    Carr DH: Chromosomal studies in selected spontaneous abortions. Polyploidy in man. J Med Genet 8:164, 1971.PubMedGoogle Scholar
  391. 389.
    Book JA, Santesson B: Malformation syndrome in man associated with triploidy (69 chromosomes). Lancet i:858, 1960.Google Scholar
  392. 390.
    Toaff R, Toaff ME, Pevser MR: Mid-trimester pre-eclamptic toxemia in triploid pregnancies. Isr J Med Sci 12:234, 1976.PubMedGoogle Scholar
  393. 391.
    Zellweger H, Simpson J: Chromosomes of Man. Philadelphia: J.B. Lippincott, 1977.Google Scholar
  394. 392.
    Ferrier P, Ferrier S, Stalder G, Bühler E, Bamatter F, Klein D: Congenital asymmetry associated with diploid-triploid mosaicism and large satellites. Lancet i:80, 1964.Google Scholar
  395. 393.
    Graham JM, Hoehn H, Lin MS, Smith DW: Diploid-triploid mixoploidy: clinical and cytogenetic features. Pediatrics 68:23, 1981.PubMedGoogle Scholar
  396. 394.
    Emerger JM, Marty-Double C, Pincemin D, Caderas de Kerleau J: Holoprosencephalie, triploidie 69, XXX, chez un foetus de 5 mois. Ann Genet (Paris) 19:191, 1976.Google Scholar
  397. 395.
    Gosden CM, Wright MO, Paterson WG, Grant KA: Clinical details, cytogenetic studies and cellular physiology of 69, XXX fetus with comments on the biological effect of triploidy in man. J Med Genet 13:371, 1976.PubMedGoogle Scholar
  398. 396.
    Tarkanen A, Merenmies L, Rapola J: Ocular pathology in triploidy (69, XXY). Ophthalmologica 163:90, 1971.Google Scholar
  399. 397.
    Wertelecki W, Graham JM, Sergovich FR: The clinical syndrome of triploidy. Obstet Gynecol 47:69, 1976.PubMedGoogle Scholar
  400. 398.
    Jacobs PA, Szulman AE, Funkhouser J, Matsuura JS, Wilson CC: Human triploidy: relationship between parental origin of the additional haploid complement and development of partial hydatidiform mole. Ann Hum Genet 46:223, 1982.PubMedGoogle Scholar
  401. 399.
    Poland BJ, Bailie DL: Cell ploidy in molar placental disease. Teratology 18:353, 1978.Google Scholar
  402. 400.
    Szulman AE, Philippe E, Boue JG, Boue A: Human triploidy: association with partial hydatidiform moles and nonmolar conceptuses. Hum Pathol 12:1016, 1981.PubMedGoogle Scholar
  403. 401.
    Wilcock AR, Adams FG, Cooke P, Gordon RR: Deletion of short arm of No. 4 (4P-): a detailed case report. J Med Genet 7:171–176, 1970.PubMedGoogle Scholar
  404. 402.
    Arias D, Passarge E, Engle MA, German J: Human chromosomal deletion: two patients with the 4p-syndrome. J Pediatr 76:82–88, 1970.PubMedGoogle Scholar
  405. 403.
    Guthrie RD, Aafe GM, Asper AC, Smith DW. The 4p-syndrome. A clinically recognizable chromosomal deletion syndrome. Am J Dis Child 122:421–426, 1971.PubMedGoogle Scholar
  406. 404.
    Passarge E, Altrogge HC, Rudiger RA: Human chromosomal deficiency: The 4p-syndrome. Humangenetik 10:51–57, 1970.PubMedGoogle Scholar
  407. 405.
    Lejeune J, Lafourcade J, Berger R, Vialatte J, Boeswillwald M, Seringe P, Turpin R: Trois cas de deletion partielle du bras cour du chromosome 5. CR Acad Sci (D) (Paris) 257:3098, 1963.Google Scholar
  408. 406.
    Berg JM, Delhanty JDA, Faunch JA, Ridler MAC: Partial deletion of short arm of a chromosome of the 4 and 5 group (Denver) in an adult male. J Ment Defic Res 9:219, 1965.PubMedGoogle Scholar
  409. 407.
    Breg WR, Steele MW, Miller OJ, Warburton D, deCapoa D, Allderdice PW: The cri-duchat syndrome in adolescents and adults: clinical finding in 13 older patients with partial deletion of the short arm of chromosome No. 5 (5p-). J Pediatr 77:782, 1970.PubMedGoogle Scholar
  410. 408.
    Wertelecki W, Graham JM, Sergovich FR: The clinical syndrome of triploidy. Obstet Gynecol 47:69, 1976.PubMedGoogle Scholar
  411. 409.
    Francke U: Partial duplication 20p. In: Yunis JJ (ed): New Chromosomal Syndromes. New York: Academic Press, 1977.Google Scholar
  412. 410.
    Schinzel A: Trisomy 20pter-qll in a malformed boy from a 5(13:20) (p11:q11) translocation carrier mother. Hum Genet 53:169, 1980.PubMedGoogle Scholar
  413. 411.
    Alfi OS, Donnell GN, Allderdice PW, Derencsenyi A: The 9p-syndrome. Ann Genet 19:11, 1976.PubMedGoogle Scholar
  414. 412.
    Alfi OS, Donnell GN, Crandall BF, Derencsenyi A, Menon R: Deletion of the short arm of chromosome 9 (46, 9p-): A new deletion syndrome. Ann Genet 16:17, 1973.PubMedGoogle Scholar
  415. 413.
    Mattei JF, Mattei MG, Ardissane JP, Taramasco H, Giraud F: Pericentric inversion, inv(9) (p22 q32), in the father of the child with a duplication-deletion of chromosome 9 and gene dosage effect for adenylate kinase-1. Clin Genet 17:129, 1980.PubMedGoogle Scholar
  416. 414.
    Centerwall WR, Beatty-DeSana JW: The trisomy 9p syndrome. Pediatrics 56:748, 1975.PubMedGoogle Scholar
  417. 415.
    Centerwall WR, Miller KS, Reeves LM: Familial “partial 9p” trisomy: six cases and four carriers in three generations. J Med Genet 13:57, 1976.PubMedGoogle Scholar
  418. 416.
    Schinzel A: Trisomy 9p, a chromosome aberration with distinct radiologic findings. Radiology 130:125, 1979.PubMedGoogle Scholar
  419. 417.
    Franke U, Holmes LB, Atkins L, Riccardi VM: Aniridia-Wilms’ tumor association: evidence for specific deletion of llpl3. Cytogenet Cell Genet 24:185, 1979.Google Scholar
  420. 418.
    Hittner HM, Riccardi VM, Francke U: Aniridia caused by a heritable chromosome 11 deletion. Ophthalmology 86:1173, 1979.PubMedGoogle Scholar
  421. 419.
    Slater RM, de Kraker J: Chromosome number 11 and Wilms’ tumor. Cancer Genet Cytogenet 5:237, 1982.PubMedGoogle Scholar
  422. 420.
    Miller RW: Birth defects and cancer due to small chromosomal deletions. J Pediatr 96:1031, 1980.PubMedGoogle Scholar
  423. 421.
    Riccardi VM, Sujansky E, Smith AC, Francke U: Chromosomal imbalance in aniridia-Wilms tumor association: 11p interstitial deletion. Pediatrics 61:604, 1978.PubMedGoogle Scholar
  424. 422.
    Shannon RS, Mann JR, Harper E, Harnden DG, Morten JE, Herbert A: Wilms’ tumor and cytogenetic features. Arch Dis Child 57:685, 1982.PubMedGoogle Scholar
  425. 423.
    Riccardi VM, Hittner HM, Strong LI, Fernbach DJ, Lebo R, Ferrell RE: Wilms tumor with aniridia/iris dysplasia and apparently normal chromosomes. J Pediatr 100:574, 1982.PubMedGoogle Scholar
  426. 424.
    Riccardi VM, Hittner HM, Francke U, Pippen S, Holmquist GP, Kretzer FL, Ferrell R: Partial triplication and deletion of 13q: study of a family presenting with bilateral retinoblastoma. Clin Genet 18:332, 1979.Google Scholar
  427. 425.
    Bove KE, McAdams AJ: The nephroblastomatosis complex and its relationship to Wilms’ tumor: A clinicopathological treatise. Perspect Pediatr Pathol 3:185, 1976.PubMedGoogle Scholar
  428. 426.
    Daube JR, Chou SM: Lissencephaly: Two cases. Neurology 16:1979, 1966.Google Scholar
  429. 427.
    Dieker H, Edwards RH, ZuRhein G, Chou SM, Hartman HA, Opitz JM: The lissencephaly syndrome. Birth Defects 5(2):53, 1969.Google Scholar
  430. 428.
    Garcia CA, Dunn D, Trevor R: The lissencephaly (agyria) syndrome in siblings: Computerized tomographic and neuropathologic findings. Arch Neurol 35:608, 1978.PubMedGoogle Scholar
  431. 429.
    Hanaway J, Lee SI, Netsky MG: Pachygyria: Relation of findings to modern embryologic concepts. Neurology 18:791, 1968.PubMedGoogle Scholar
  432. 430.
    Jellinger K, Rett A: Agyria-pachygyria (lissencephaly syndrome). Neuropediatrics 7:66, 1976.Google Scholar
  433. 431.
    Jones KL, Gilbert EF, KAveggia EG, Opitz JM: The Miller-Dieker syndrome. Pediatrics 66:277, 1980.PubMedGoogle Scholar
  434. 432.
    Miller JO: Lissencephaly in two siblings. Neurology 13:841, 1963.PubMedGoogle Scholar
  435. 433.
    Norman MG, Roberts M, Sirois J, Tremblay LJM: Lissencephaly. J Can Sci Neurol 3:39, 1976.Google Scholar
  436. 434.
    Potter EL: Bilateral renal agenesis. J Pediatr 29:68, 1946.PubMedGoogle Scholar
  437. 435.
    Triello HV, Bauserman SC: Bilateral pulmonary agenesis: Association with the hydrolethalus syndrome and review of the literature from a developmental field perspective. Am J Med Genet 21:93, 1985.Google Scholar
  438. 436.
    Van Allen M, Clarren SK: A spectrum of gyral anomalies in Miller-Dieker (lissencephaly) syndrome. J Pediatr 102:559, 1983.PubMedGoogle Scholar
  439. 437.
    Dobyns WB: Developmental aspects of lissencephaly and the lissencephaly syndromes. In: Genetic Aspects of Developmental Pathology. New York: Alan R. Liss, 1987, pp. 225–242.Google Scholar
  440. 438.
    Dobyns WB, Stratton RF, Parke JT, Greenberg F, Nussbaum RL, Ledbetter DH: Miller-Dieker syndrome: Lissencephaly and monosomy 17p. J Pediatr 102:552, 1983.PubMedGoogle Scholar
  441. 439.
    Van Allen M, Clarren Sk: A spectrum of gyral anomalies in Miller-Dieker (lissencephaly) syndrome. J Pediatr 102:559, 1983.PubMedGoogle Scholar
  442. 440.
    Schinzel A, Schmid W, Fraccar M, Tripolo L, Zuffardi O, Opitz JM, Lindsten, J, Zetterqvist P, Enell H, Baccichetti C, Tenconi R, Pagon RA: The ‘Cat Eye Syndrome’: dicentric small marker chromosome probably derived from a No. 22 (tetrasomy 22pterq11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture. Hum Genet 57:148–158, 1981.PubMedGoogle Scholar
  443. 441.
    Schachenmann G, Schmid W, Fraccaro M, Mannini A, Tiepolo L, Perona GP, Sartori E: Chromosomes in coloboma and anal atresia. Lancet ii:290, 1965.Google Scholar
  444. 442.
    Gerald PS, Davis C, Say B, Wilkins J: Syndromal association of imperforate anus: the cat eye syndrome. Birth Defects 8(2):79–84, 1972.Google Scholar
  445. 443.
    Yunis JJ, Sanchez O: A new syndrome resulting from partial trisomy for the distal third of the long arm of chromosome 10. J Pediatr 84:567, 1974.PubMedGoogle Scholar
  446. 444.
    Francke U: Quinacrine mustard fluorescence of human chromosomes: characterization of unusual translocations. Am J Hum Genet 24:189, 1972.PubMedGoogle Scholar
  447. 445.
    Klep-de Pater JM, Bijlsma JB, de France HF, Leschot NJ, den Berge MD, van Hemel JO: Partial trisomy 10q. A recognizable syndrome. Hum Genet 46:29, 1979.PubMedGoogle Scholar
  448. 446.
    Laurent C, Bovier-Lapierre M, Dutrillauz B: Trisomie 10 partielle par translocation familiale t(l:10) (q44, q22). Humanqenetik 18:321, 1973.Google Scholar
  449. 447.
    Juberg RC, Christopher CR, Alvira MM, Gilbert EF: CPC: dup (lOq), del (12p) in one abnormal, dizygotic twin infant in a t(10:12) (q22.1;pl3.3) mother. Am J Med Genet 18:201, 1984.PubMedGoogle Scholar
  450. 448.
    Gonzalez CH, Sommer A, Meisner LF, Elejalde BR, Opitz JM: The trisomy 4p syndrome: case report and review. Am J Med Genet 1:137, 1977.PubMedGoogle Scholar
  451. 449.
    Dallapiccola B, Mastroiacovo PP, Montali E, Sommer A: Trisomy 4p: five new observations and overview. Clin Genet 12:344, 1977.PubMedGoogle Scholar
  452. 450.
    Crane J, Sujanski W, Smith A: 4p trisomy syndrome: Report of 4 additional cases and segregation analysis of 21 families with different translocations. Am J Med Genet 4:219, 1979.PubMedGoogle Scholar
  453. 451.
    Schinzel A: Catalog of Unbalanced Chromosome Aberrations in Man. New York: DeGruyter, 1984.Google Scholar
  454. 452.
    Francke U: Partial duplication 20p. In: Yunis JJ (ed): New Chromosomal Syndromes. New York: Academic Press, 1977.Google Scholar
  455. 453.
    Elejalde BR, Opitz JM, de Elejalde MM, Gilbert EF, Abellera M, Meisner L, Lebel RR, Hartigan JM: Tandem dup(lp) within the short arm of chromosome 1 in a child with ambiguous genitalia and multiple congenital anomalies. Am J Med Genet 17:723, 1984.PubMedGoogle Scholar
  456. 454.
    Brook CGD, Mürset G, Zachmann M, Prader A: Growth in children with 45, XO Turner’s syndrome. Arch Dis Child 49:789, 1974.PubMedGoogle Scholar
  457. 455.
    De la Chapella A: Cytogenetical and clinical observations in female gonadal dysgenesis. Acta Endocrinol Suppl 65:1, 1962.Google Scholar
  458. 456.
    Lindsten J: The Nature and Origin of X Chromosome Aberrations in Turner’s Syndrome. Stockholm: Almqvist and Wiksell, 1963.Google Scholar
  459. 457.
    Rössle RI, Wachstum, Altern, München: Hypertrophie und atrophie. Jahresk f arztl forthild XIII: 13, 1972.Google Scholar
  460. 458.
    Turner HH: A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology 23:566, 1938.Google Scholar
  461. 459.
    Weiss L: Additional evidence of gradual loss of germ cells in the pathogenesis of streak ovaries in Turner’s syndrome. J Med Genet 8:540, 1972.Google Scholar
  462. 460.
    Cleeve DM, Older RA, Cleeve LK, Bredael JJ: Retrocaval ureter in Turner syndrome. Urology 13:544, 1979.PubMedGoogle Scholar
  463. 461.
    Goodyer PR, Fong JSC, Kaplan BS: Turner’s syndrome, 46X, del (x) (p11), persistent complement activation and membranoproliferative glomerulonephritis. Am J Nephrol 2:272, 1982.PubMedGoogle Scholar
  464. 462.
    Iijima K, Higurashi M, Hirayama M: Incidence of 47, XYY karyotype in a consecutive series of newborn males in Tokyo. Hum Genet 43:211, 1978.PubMedGoogle Scholar
  465. 463.
    Cote GB, Tsomi K, Papadakou-Lagoyanni S, Petmezaki S: Oligohydramnios syndrome and XYY karyotype. Ann Genet 121:226, 1978.Google Scholar
  466. 464.
    Schmidt R, Pajewski M, Rosenblatt M: Epiphyseal dysplasia: a constant finding in XXXXY syndrome. J Med Genet 15:282, 1978.PubMedGoogle Scholar
  467. 465.
    Cohen AJ, Li FP, Berg S, Marchetto DJ, Tsai S, Jacobs SC, Brown RS: Hereditary renal-cell carcinoma associated with a chromosomal translocation. N Engl J Med 301:592, 1979.PubMedGoogle Scholar
  468. 466.
    Kantor AF, Blattner WA, Blot WJ, Fraumeni JF, McLaughlin JK, Schuman LM, Lindquist LL, Wang N: Hereditary renal carcinoma and chromosomal defects. N Engl J Med 307:1403, 1982.PubMedGoogle Scholar
  469. 467.
    Li FP, Marchetto DJ, Brown RS: Familial renal carcinoma. Cancer Genet Cytogenet 7:271, 1982.PubMedGoogle Scholar
  470. 468.
    Rott HD, Schwantiz G, Grosse KP, Alexandrow G, Hagele C: C11/D13-translocation in four generations. Hum Genet 14:300, 1972.Google Scholar

Copyright information

© Kluwer Academic Publishers 1990

Authors and Affiliations

  • Enid F. Gilbert-Barness
  • John M. Opitz
  • Lewis A. Barness

There are no affiliations available

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