Abstract
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].
Keywords
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.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
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.
Barth RA, Mindell HJ: Renal masses in the fetus and neonate: ultrasonographic diagnosis. Semin Ultrasound CT MR 5:3–18, 1984.
Harrison MR, Golbus MS, Filly RA, et al.: Fetal surgery for congenital hydronephrosis. N Engl J Med 306:591–593, 1982.
Bernstein J: Developmental abnormalities of the renal parenchyma—hypoplasia and dysplasia. Pathol Annu 3:213–247, 1968.
Bernstein J: The morphogenesis of renal parenchymal maldevelopment (renal dysplasia). Pediatr Clin North Am 18:395–407, 1971.
Pathak IG, Williams DI: Multicystic and cystic dysplastic kidneys. Br J Urol 36:318–331, 1963.
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.
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.
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.
Barrett DM, Wineland RE: Renal cell carcinoma in multicystic dysplastic kidney. Urology 15:152–154, 1980.
Birken G, King D, Vane D, Lloyd T: Renal cell carcinoma arising in a multicystic dysplastic kidney. J Pediatr Surg 20:619–621, 1985.
Bearman SB, Hine PL, Sanders RC: Multicystic kidney: a sonographic pattern. Radiology 118:685–688, 1976.
Stuck KJ, Koff SA, Silver TM: Ultrasonic features of multicystic dysplastic kidney: expanded diagnostic criteria. Radiology 143:217–221, 1982.
Greene LF, Feinzaig W, Dahlin DC: Multicystic dysplasia of the kidney: with special reference to the contralateral kidney. J Urol 105:482–487, 1971.
Kleiner B, Filly RA, Mack L, Callen PW: Multicystic dysplastic kidney: observations of contralateral disease in the fetal population. Radiology 161:27–29, 1986.
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.
Rapola J, Salonen R: Visceral anomalies in the Meckel syndrome. Teratology 31:193–201, 1985.
Bernstein J: Hepatic and renal involvement in malformation syndromes. Mt Sinai J Med 53:421–428, 1986.
Al Saadi AA, Yoshimoto M, Bree R, et al.: A family study of renal dysplasia. Am J Med Genet 19:669–677, 1984.
Buchta RM, Viseskul C, Gilbert EF, Sarto GE, Opitz JM: Familial bilateral renal agenesis and hereditary renal adysplasia. Z Kinderheilk 115:111–129, 1973.
McPherson E, Carey J, Kramer A, et al.: Dominantly inherited renal adysplasia. Am J Med Genet 26:863–872, 1987.
Squiers EC, Morden RS, Bernstein J: Renal multicytic dysplasia. An occasional manifestation of the hereditary renal adysplasia syndrome. Am J Med Genet, in press.
Milliken LD, Hodgson NB: Real dysplasia due to urethral valves. J Urol 108:960–962, 1972.
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.
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.
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.
Yates JRW, Mortimer G, Connor JM, Euke EJ: Concordant monozygotic twins with bilateral renal agenesis. J Med Genet 21:66, 1984.
Roodhooft AM, Birnholz JC, Holmes LB: Familial nature of congenital absence and severe dysgenesis of both kidneys. N Engl J Med 310:1341, 1984.
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.
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.
Bernstein J, Meyer R: Parenchymal maldevelopment of the kidney. In: Brennemann-Kelley (ed): Practice of Pediatrics. Hagerstown: Harper and Row, 1967.
Gonzalez-Angulo A, Alford BR, Greenberg SD: Tuberous sclerosis: an otolaryngic diagnosis. Arch Otolaryng 80:193, 1964.
Osathanondh V, Potter EL: Pathogenesis of polycystic kidneys. Arch Pathol 77:459, 1964.
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.
Cree JE: Tuberous sclerosis with polycystic kidneys. Proc R Soc Med (London) 62:327, 1969.
Von Hippel E: Über eine sehr seltene Erkrankung der Netzhaut; klinische Beobächtungen. Arch Ophthalmol 59:83, 1904.
Lindau A: Cysts in cerebellum: structure, pathogenesis and relations to angiomatosis of retina. Acta Pathol Microbiol Scand (Suppl) 1:1, 1926.
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.
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.
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.
Grosse FR, Kaveggia E, Opitz JM: Familial hydronephrosis. Z Kinderheilk 114:313, 1973.
Pochaczevsky R, Parviz N, Ratner H: Congenital nonobstructive hydronephrosis and bilateral vesicoureteral reflux in identical twins. Am J Roentgenol 120:398, 1974.
Finn R, Carruthers JA: Genetic aspects of hydronephrosis associated with renal agenesis. Br J Urol 46:351, 1974.
Orr LM: Familial hydronephrosis. Urologists’ Correspondence Club Letter. August 4, 1961.
Jewll JH, Buchert WI: Unilateral hereditary hydronephrosis: a report of four cases in three consecutive generations. J Urol (Baltimore) 88:129, 1962.
Watson GH, Miller V: Arteriohepatic dysplasia. Familial pulmonary arterial stenosis with neonatal liver disease. Arch Dis Child 48:459–466, 1973.
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.
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.
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.
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.
LaBrecque DR, Mitros FA, Nathan RJ, Romanchuk KG, Judisch GF El-Khoury GH: Four generations of arteriohepatic dysplasia. Hepatology 2:467–474, 1982.
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.
Watson GH, Miller V: Arteriohepatic dysplasia. Familial pulmonary arterial stenosis with neonatal liver disease. Arch Dis Child 48:459–466, 1973.
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.
Lester AM: Familial dyschondroplasia associated with anonchia and other deformities. Lancet ii:1519, 1936.
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.
Del Pozo E, Lapp H: Ultrastructure of the kidney in the nephropahy of the nail-patella syndrome. Am J Clin Pathol 54:845, 1970.
Ben-Bassat M, Cohen L, Rosenfeld J: The glomerular basement membrane in the nail-patella syndrome. Arch Pathol 92:350, 1971.
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.
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.
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.
Gubler MC, Levy M, Naizot C, Habib R: Glomerular basement membrane changes in hereditary glomerular disease. Renal Physiol 3:405, 1980.
Melnick M, Bixler D, Silk K, Yune H, Nance W: Autosomal dominant branchio-oto-renal dysplasia. Birth Defects 11(5):121, 1975.
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.
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.
Opitz JM, Frias JL, Gutenberger JE, Pellett JR: The G syndrome of multiple congenital anomalies. Birth Defects 5(2):95, 1969.
Little JR, Opitz JM: The G syndrome. Am J Dis Child 121:505, 1971.
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.
Gilbert EF, Viseskul C, Mossman HW, Opitz JM: The pathologic anatomy of the G syndrome. Z Kinderheilk 111:290, 1972.
Eckoldt JG, Martens FH: Über eine sehr komplicierte Hasenscharte. Leipzig: Steinacker, 1804.
Ahrens K: Chromosomale Untersuchungen bei craniofacialen Missbildungen (Cases 3A, B). HNO 15:106, 1967.
Kampe K: Kasuistische Beiträge zur Lehre von den Missbildungen. Münch Med Wochenschr 50:165, 1903.
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.
Wiegmann OA, Walker FA: The syndrome of lobster claw deformity and nasolacrimal obstruction. J Pediatr Ophthalmol 7:79, 1970.
Bixler D, Spivack J, Bennett J, Christian JC: The ectrodactyly-ectodemal dysplasia-clefting (EEC) syndrome. Clin Genet 3:43, 1971.
Cockayne E A: Dwarfism with retinal atrophy and deafness. Arch Dis Child 21:52,1946
Kaiser-Kupfer M: Ectrodaetyly, ectodermal dysplasia and clefting syndrome. Am J Ophthalmol 76:992, 1973.
Robinson GC, Wildervanck LS, Chiang TP: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome. J Pediatr 82:107, 1973.
Rüdiger RA, Haase W, Passarge E: Association of ectrodactyly, ectodermal dysplasia, and cleft lip-palate. Am J Dis Child 120:160, 1970.
Pfeiffer RA, Verbeck C: Spalthand und Spaltfuss, ektodermale dysplasie und Lippen-Kiefer-Gaumen-Spalte: ein autosomal dominant vererbtes Syndrom. Z Kinderheilkd 115:235, 1973.
Townes PL, Brocks ER: Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies. J Pediatr 81:321, 1972.
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.
Reid IS, Turner G: Familial anal abnormality. J Pediatr 88:992, 1976.
Monteiro de Pina-Neto JM: Phenotypic variability in Townes-Brocks syndrome. Am J Med Genet, in press.
Smith DW: Recognizable Patterns of Human Malformation, 4th ed. Philadelphia: Saunders, 1988.
Königsmark BW, Gorlin RJ: Genetic and Metabolic Deafness. Philadelphia: WB Saunders Company, 1976, pp. 60–62.
Emery AEH, Oleesky S, Williams RT: Myotonic dystrophy and polycystic disease of the kidneys. J Med Genet 4:26, 1967.
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.
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.
de Lange C: Sur un type nouveau de generation (typus Amstelodamensis). Arch Med Enfant 36:713, 1933.
France NE, Crome L, Abraham JM: Pathological features in the de Lange Syndrome. Acta Pediatr Scand 58:470, 1969.
Saraiva MJM, Birkin S, Costa PP, Boodman DS: Amyloid fibril protein in familial amyloidotic polyneuropathy Portugese type. J Clin Invest 74:104, 1984.
Van Allen NW, Frohlich JA, Davis JR: Inherited predisposition to generalized amyloidosis. Neurology 19:10, 1969.
Opitz JM, Howe JJ: The Meckel syndrome (dysencephalia splanchnocystica, the Gruber syndrome). Birth Defects 5(2):167, 1969.
Lowry RB, Hill RH, Tischler B: Survival and spectrum of anomalies in the Meckel syndrome. Am J Med Genet 14:417, 1983.
Salonen R, Norio R: The Meckel syndrome in Finland; epidemiologic and genetic aspects. Am J Med Genet 18:691, 1984.
Seller MJ: Meckel syndrome and the prenatal diagnosis of neural tube defects. J Med Genet 15:462, 1978.
Holmes LB, Driscoll SG, Atkins L: Etiologic heterogeneity of neural-tube defects. N Engl J Med 294:365, 1976.
Poland BJ, Bailie DL: Cell ploidy in molar placental disease. Teratology 18:353, 1978.
Goldston AE, Burke EC, D’Agostin, McCaughey WTE: Neonatal polycystic kidney with brain defect. Am J Dis Child 106:484, 1963.
Miranda D, Schinella RA, Finegold MJ: Familial renal dysplasia. Arch Pathol 93:483, 1972.
Smith DW, Lemli L, Opitz JM: A newly recognized syndrome of multiple congenital anomalies. J Pediatr 64:210, 1964.
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.
Opitz JM, Zellweger H, Shannon WR, Ptacek LJ: The RSH syndrome. Birth Defects 5(2):43, 1969.
Cherstvoy ED, Lazjuk GI, Nedzved MK, Usoev SS: The pathological anatomy of the Smith-Lemli-Opitz syndrome. Clin Genet 7:382, 1975.
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.
Fine RN, Gwinn JL, Young EF: Smith-Lemli-Opitz syndrome. Radiologic and postmortem findings. Am J Dis Child 115:483, 1968.
Robinson C, Perry L, Barlar A, Mella G: Smith-Lemli-Opitz syndrome and cardiovascular abnormality. Pediatrics 47:844, 1971.
Schumacher H: Das Smith-Lemli-Opitz Syndrom. Z Kinderheilk 105:88, 1969.
Srsen S: Smith-Lemli-Opitz syndrome: report of new case and review of the literature. Acta Pediatr Acad Sci Hung 13:301, 1972.
Bardet G: Sur un syndrome d’obesite infantile avec polydactylie et retinite pigmentaire. These Med (Paris) 4:79, 1920.
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.
McLoughlin TG, Shanklin DR: Pathology of Laurence-Moon-Bardet-Biedl syndrome. J Pathol Bact 93:65, 1967.
Jacobs PA, Angell RR, Buchanan IM, Hassold TJ, Matsuyama AM, Manuel B: The origin of human triploids. Ann Hum Genet 42:49, 1978.
Tieder M, Levy M, Gubler MC, Gagnadoux MF, Broyer M: Renal abnormalities in the Bardet-Biedl syndrome. Int J Pediatr Nephrol 3:199, 1982.
Cockayne EA: Dwarfism with retinal atrophy and deafness. Arch Dis Child 21:52, 1946.
Houston CS, Zaleski WA, Rozdilsky B: Identical male twins and brother with Cockayne syndrome. Am J Med Genet 13:311, 1982.
Ohno T, Hirooka M: Renal lesions in Cockayne’s syndrome. Tohoku J Exp Med 89:151, 1966.
Hernandez AL, Leon BD, Garcia S, Puente DL, Castillo YV: Lesiones renales ultraestructurales del syndrome de Cockayne. Rev Invest Clin 27:153, 1975.
Drash A, Sherman F, Hartmann WH, Blizzard RM: A syndrome of pseudohermaphroditism, Wilms’ tumor, hypertension, and degenerative renal disease. J Pediatr 76:585, 1970.
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.
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.
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.
Day DW, Israel JN: Johanson-Blizzard syndrome. Birth Defects 14(6B):275, 1978.
Morris MD, Fisher DA: Trypsinogen deficiency disease. Am J Dis Child 114:203, 1967.
Schussheim A, Choi SJ, Silverberg M: Exocrine pancreatic insufficiency with congenital anomalies. J Pediatr 89:782, 1976.
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.
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.
Daentl DL, Frias JL, Gilbert EF, Opitz JM: The Johanson-Blizzard syndrome: Case report and autopsy findings. Am J Med Genet 3:129, 1979.
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.
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.
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.
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.
Judge C: A sibship with the pseudothalidomide syndrome and an association with Rh incompatability. Med J Aust 2:280, 1973.
Lenz WD, Marquardt E, Weicker H: Pseudothalidomide syndrome. Birth Defects 10(5):97, 1974.
Herrmann J, Opitz JM: The SC phocomelia and the Roberts syndrome: Nosologie aspects. Eur J Pediatr 125:117, 1977.
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.
O’Brien HR, Mustard HS: An adult living case of total phocomelia. JAMA 77:1964, 1921.
Hall BD, Greenberg MH: Hypomelia-hypotrichosis-facial hemangioma syndrome. Am J Dis Child 123:602, 1972.
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.
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.
Gorlin RJ, Pindborg JJ, Cohen MM Jr: Syndromes of the Head and Neck, 2nd ed. New York: McGraw-Hill Book Co., 1976, 630–633.
Winter JSD, Kohn G, Mellman WJ, Wagner S: A familial syndrome of renal, genital, and middle ear anomalies. J Pediatr 72:88, 1968.
Davidson WM, Ross GIM: Bilateral absence of the kidneys and related congenital anomalies. J Pathol Bact 68:459, 1954.
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,
Turner G: A second family with renal, vaginal, and middle ear anomalies (letter). J Pediatr 76:641, 1968.
Gross H, Groh CH, Weippl G: Congenitale hypoplastische Trombopenie mit Radialplasie. Ein Syndrom multiapler Abartungen. Neue Oesterr Z Kindercheilk 1:574, 1956.
Hall JG, Levin J, Kuhn JP, Ottenheimer EJ, Van Berkum KAP, McKusick VA: Thrombocytopenia with absent radius (TAR). Medicine 48:411, 1969.
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.
Taybi H, Rubinstein JH: Broad thumbs and toes, and unusual facial features. A probable mental retardation syndrome. Am J Roentgenol 93:362, 1965.
DeBuse PJ, Morris G: Bilateral pulmonary agenesis, esophageal atresia, and the first arch syndrome. Thorax 28:526, 1973.
Lubinsky M, Severn C, Rapoport JM: Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome. Am J Med Genet 14:461, 1983.
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.
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.
Fitch N, Stolovita H, Robitaille Y, Guttman F: Absent left hemidiaphragm, arhinencephaly, and cardiac malformations. J Med Genet 15:399, 1978.
Papillon-Leage, Psaume J: Une malformation hereditaire de la muqueuse buccale: brides et freins anormaux. Rev Stomatol (Paris) 55:209, 1954.
Gorlin RJ, Psaume J: Orodigitofacial dysostosis—a new syndrome. J Pediatr 61:520, 1962.
Majewski F, Lenz W, Pfeiffer RA, Tünte W: Das oro-facio-digitale Syndrome. Symptome und Prognose. Z Kinderheilkd 112:89, 1972.
Whelan DT, Feldman W, Dost I: The oro-facial-digital syndrome. Clin Genet 8:205, 1975.
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.
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.
Edelson PJ, Spackman TJ, Belliveau RE, Mahoney MJ: A renal lesion in asphyxiating thoracic dysplasia. Birth Defects 10(6):51, 1974.
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.
Gruskin A, Baluarte HJ, Cote ML, Elfenbein IB: The renal disease of thoracic asphyxiant dystrophy. Birth Defects 10(16):44, 1974.
Herdman RC, Langer LO: The thoracic asphyxiant dystrophy and renal disease. Am J Dis Child 116:192, 1968.
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.
Saldino RM, Noonan CD: Lethal short-limbed dwarfism: achondrogenesis and thanatophore dwarfism. Am J Roentgenol 112:185, 1971.
Somers GF: Thalidomide and congenital abnormalities. Lancet i:912, 1962.
Elejalde R, Giraldo C, Jimenez R, Gilbert EF: Acrocepalopholydactylous dysplasia. Birth Defects 13(3B):53, 1977.
Smith DW, Opitz JM, Inhorn SL: A syndrome of multiple developmental defects including polycystic kidneys and intrahepatic biliary dysgenesis. J Pediatr 67:617, 1965.
Opitz JM: Zellweger (Cerebrohepatorenal) syndrome. Genetic knowledge base project, Lister Hill Institute/NLM, 1984.
Bowen P, Lee CSN, Zellweger H, Lindenberg R: A familial syndrome of multiple congenital defects. Bull Johns Hopkins Hosp 114:402, 1964.
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.
Taylor JC, Zellweger H, Hanson JW: A new case of the Zellweger syndrome. Birth Defects 5(2):159, 1969.
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.
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.
Vitale L, Opitz JM, Shahidi NT: Congenital and familial iron overload. N Engl J Med 280: 642, 1969.
Volpe JJ, Adams RD: Cerebro-hepato-renal syndrome of Zellweger: an inherited disorder of neuronal migration. Acta Neuropathol (Berl) 20:175, 1972.
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.
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.
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.
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.
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.
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.
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.
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.
Burton BK, Reed SP, Remy WT: Hyperpipecolic acidemia: Clinical and biochemical observations in two male siblings. J Pediatr 99:729, 1981.
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.
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.
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.
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.
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.
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.
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.
Mantogos S, Genel M, Tanaka K: Ethylmalonic-adipic aciduria. J Clin Invest 64:1580, 1979.
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.
Sweetman L, Nyhan WL, Trauner DA, Merritt TA, Singh M: Glutaric aciduria type II. J Pediatr 96:1020, 1980.
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.
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.
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.
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.
Kelley RI, Moser HW: Hyperpipecolic acidemia in neonatal adrenoleukodystrophy. In press.
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.
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.
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.
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.
Schwartz BR, Lage JM, Pober BR, Driscoll SG: Isolated congenital renal tubular immaturity in siblings. Hum Pathol 17:1259–1263, 1987.
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.
Lowe CU, Terrey M, MacLachland EA: Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation. Am J Dis Child 82:164, 1952.
Illig R, Dumermuth G, Prader A: Das oculocerebro-renale Syndrom (Lowe). Helv Paediatr Acta 18:173, 1963.
Richards W, Donnell GN, Wilson Wa, Stowens D, Perry T: The oculo-cerebro-renal syndrome of Lowe. Am J Dis Child 109:185, 1965.
Swyer GIM: Gonadal dysgenesis. Br Med J 1:1421, 1957.
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.
Harkins PG, Haning RV Jr, Shapiro SS: Renal failure with XY gonadal dysgenesis: report of the second case. Obstet Gynecol 56:751, 1980.
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.
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.
Goeminne L: A new probably X-linked inherited syndrome. Congenital muscular torticollis, multiple keloids, cryptorchidism and renal dysplasia. Acta Genet Med 17:439, 1967.
Kallmann FJ, Schoenfeld WA, Barrera SE: The genetic aspects of primary eunuchoidism. Am J Ment Defic 48:203, 1944.
Nowakowski H, Lenz W: Genetic aspects in male hypogonadism. Recent Prog Horm Res 17:53, 1961.
Sparkes RS, Simpson RW, Paulsen CA: Familial hypogonadotropic hypogonadism with anosmia. Arch Intern Med 21:534, 1968.
Naftolin F, Harris GW, Bobrow M: Effect of purified luteinizing hormone releasing factor on normal and hypogonadotrophic anosmic men. Nature 232:496, 1971.
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.
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.
Leutenegger M, Poynard JP, Gross A, Ricard Y: Forme familiale de syndrome de De Morsier-Kallmann. Nouv Presse Med 10:909, 1981.
Hockaday TDR: Hypogonadism and life-long anosmia. Postgrad Med J 42:572, 1966.
Merriam GR, Beitins IZ, Bode HH: Father-to-son transmission of hypogonadism with anosmia. Am J Dis Child 131:1216, 1977.
Santen RJ, Paulsen CA: Hypogonadotropic eunuchoidism. I. Clinical study of the mode of inheritance. J Clin Endocrinol Metab 36:47, 1973.
Schroffner WG, Furth ED: Hypogonadotropic hypogonadism with anosmia (Kallmann’s syndrome) unresponsive to clomiphene citrate. J Clin Endocrinol Metab 31:267, 1970.
Christian JC, Bixler D, Dexter RN, Donahue JP: Hypogonadotropic hypogonadism with anosmia: The Kallmann syndrome. Birth Defect 7(6):166, 1971.
Dornan J, Barnard JM, Farid NR: Lack of close linkage of hypogonadotropic hypogonadism with HLA. Tissue Antigens 15:510, 1980.
Males JL, Townsend JL, Schneider RA: Hypogonadotropic hypogonadism with anosmia— Kallmann’s syndrome. Arch Intern Med 131:501, 1973.
Tomita M: Consecutive administration of synthetic LRH In the evaluation of gonadotrophin reserve in children. Acta Endocrinol 94:289, 1980.
Turksoy RN: Dissocation of prolactin responsiveness to thyrotropin-releasing hormone and chlorpromazine in a female with Kallmann’s syndrome. Fertil Steril 32:228, 1979.
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.
Swanson SL, Santen RJ, Smith DW: Multiple lentigines syndrome: new findings of hypogonadotrophism, hyposomia, and unilateral renal agenesis. J Pediatr 78:1037, 1971.
Gorlin RJ, Jue KL, Jacobsen U, Goldschmidt E: Oculoauriculovertebral dysplasia. J Pediatr 63:991, 1963.
Opitz JM, Faith GC: Visceral anomalies in an infant with the Goldenhar syndrome. Birth Defects 5(2): 104, 1969.
Gross W: Ein Fall von Agenesis der linken Lunge. Beitr Path Anat 37:487, 1905.
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.
Klippel M, Trenaunay P: Du naevus variquex osteo-hypertrophique. Arch Gen Med 185:641, 1900.
Parkes-Weber F: Angioma formation in connection with hypertrophy of limbs and hemihypertrophy. Br J Dermatol 19:231, 1907.
Cole BR, Kaufman RL, McAlister WH, Kissane JM: Bilateral renal dysplasia in three siblings: Report of a survivor. Clin Nephrol 5:83–87, 1976.
Rissier HL Jr: Hemangiomatosis of the intestine. Gastroenterologia 93:357, 1960.
Kuffer FR, Starzynsky TE, Girolami A, Murphy L, Grabstald H: Klippel-Trenaunay syndrome, visceral angiomatosis and thrombocytopenia. J Pediatr Surg 3:65, 1968.
Kasabach HH, Merritt KK: Capillary hemangioma with extensive purpura. Am J Dis Child 59:1063, 1940.
Mankad VN, Gray GF, Miller DR: Bilateral nephroblastomatosis and Klippel-Trenaunay Syndrom. Cancer 33:1462, 1974.
Wiedmann HR: Complexe malformatif familial avec hernie ombilicale et macroglossie—“un Syndrom nouveau”. J Genet Hum 13:223, 1964.
Beckwith JB: Macroglossia, omphalocele, adrenal cytomegaly, gigantism, and hyperplastic visceromegaly. Birth Defects 5(2): 188, 1969.
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.
Jones KL, Smith DW: Recognition of the fetal alcohol syndrome in early infancy. Lancet ii:999, 1973.
Williams JCP, Barratt-Boyes BG, Lowe JB: Supravalvular aortic stenosis. Circulation 24:1311, 1961.
Babbitt DP, Dobbs J, Boedecker RA: Multiple bladder diverticula in Williams “elfin-facies” syndrome. Pediatr Radiol 8:29, 1979.
Friedman WF: Vitamin D as a cause of the supravalvular aortic stenosis syndrome. Am Heart J 73:718, 1967.
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.
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.
White RA, Preus M, Watters GV, Fraser FC: Familial occurence of the Williams syndrome. J Pediatr 91:614, 1977.
Rubinstein JH, Taybi H: Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. Am J Dis Child 105:588, 1963.
Job JC, Rossier A, de Grandprey J: Études sur les nanismes constitutionnels. II. Le syndrome de Rubinstein et Taybi. Ann Pediatr 11:646, 1964.
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.
Taybi H, Rubinstein JH: Broad thumbs and toes, and unusual facial features. A probable mental retardation syndrome. Am J Roentgenol 93:362, 1965.
Coffin GS: Brachydactyly, peculiar facies and mental retardation. Am J Dis Child 108:351, 1964.
Principi N: Su un caso di sindrome di Rubinstein e Taybi. Minerva Pediatr 18:1037, 1966.
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.
Salmon MA: The Rubinstein-Taybi syndrome: a report of two cases. Arch Dis Child 43:102, 1968.
Johnson CF: Broad thumbs and broad great toes with facial abnormalities and mental retardation. J Pediatr 68:942, 1966.
Rubinstein JH: The broad thumbs syndrome—progress report 1968. Birth Defects 5(2):25, 1969.
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.
Silver HK, Kiyasu W, George J, Deamer WC: Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins. Pediatrics 12:368, 1953.
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.
Haslam RHA, Berman W, Heller RM: Renal abnormalities in the Russell-Silver syndrome. Pediatrics 51:216, 1973.
Lattimer JK: Congenital deficiency of abdominal musculature and associated genitourinary anomalies. J Urol 79:343, 1958.
Silverman FN, Huang N: Congenital absence of the abdominal muscles. Am J Dis Child 80:91, 1950.
Stumme EG: Ueber die symmetrischen kongenitalen Bauchmuskeldefekte und über die Kombination derselben mit anderen Bildungsanomalien des Rumpfes. Mit Grenzgebiete Med Chir 6:548, 1903.
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.
Parker RW: Absence of abdominal muscles in an infant. Lancet i:1252, 1985.
Eagle JF, Barrett GS: Congenital deficiency of abdominal musculature with associated genitourinary abnormalities: A syndrome: report of nine cases. Pediatrics 6:721, 1950.
Burton BK, Dillard RG: Brief clinical report: prune belly syndrome: observations supporting the hypothesis of abdominal overdistention. Am J Med Genet 17:669, 1984.
Palmer JM, Tesluk H: Ureteral pathology in the prune belly syndrome. J Urol (Baltimore) 111:701, 1974.
Cremin BJ: The urinary tract anomalies associated with agenesis of the abdominal wall. Br J Radiol 44:767, 1971.
Uehling DT, Gilbert EF, Chesney RW: Urologic implications of the VATER association. J Urol 129:352, 1983.
McLoughlin TG, Shanklin DR: Pathology of Laurence-Moon-Bardet-Biedl syndrome. J Pathol Bact 93:65, 1967.
Potter EL: Bilateral renal agenesis. J Pediatr 29:68, 1946.
Thomas IT, Smith DW: Oligohydramnios, cause of the non-renal features of Potter’s syndrome, including pulmonary hypoplasia. J Pediatr 84:811, 1974.
Quan L, Smith DW: The VATER association: vertebral defects and atresia, tracheoesophageal fistula with esophageal atresia, radial dysplasia. Birth Defects 8(2):75, 1972.
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.
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.
Duncan PA, Shapiro LR: MURCS and VATER associations: Vertebral and genitourinary malformations with distinct embryologic pathogenetic mechanisms. Abst Teratology 19:24A, 1979.
Duncan PA, Shapiro LR: Sirenomelia, the VATER association and facial assymetry: interrelated disorders. Teratology 23:33A, 1981.
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.
Russell LJ, Weaver DD, Bull MJ: The axial mesodermal dysplasia spectrum. Pediatrics 67:176, 1981.
Lubinsky M, Severn C, Rapoport JM: Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome. Am J Med Genet 14:461, 1983.
Fuhrmann W: A new polydactyly/imperforate anus/vertebral-anomalies syndrome. Lancet ii:918, 1968.
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.
Duncan PA: Embryologic pathogenesis of renal agenesis associated with cervical vertebral anomalies (Klippel-Feil phenotype). Birth Defects 13(3D):91, 1977.
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.
Griffin JE, Edwards C, Madden JD, Harrod MJ, Wilson JD: Congenital absence of the vagina. Ann Intern Med 85:224, 1976.
Kanner A, Wolf P, Jones KL, Robinson L, Volano J: CHARGE association presenting as Trisomy 18. Lab Invest 50:6P, 1984.
Hall BD: Choanal atresia and associated multiple anomalies. J Pediatr 95:395, 1979.
Hittner HM, Riccardi VM, Francke U: Aniridia caused by a heritable chromosome 11 deletion. Ophthalmology 86:1173, 1979.
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.
Czeizel A: Schisis-association. Am J Med Genet 10:25, 1981.
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.
Josephson K: The G syndrome revisited. Master of Science (Medical Genetics) Thesis, University of Wisconsin, 1981.
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.
Opitz JM: Developmental analysis of human congenital anomalies. In: Skeletal Dysplasias. New York: Alan R. Liss, 1982, pp. 15–43.
Opitz JM: The developmental field concept in clinical genetics. J Pediatr 101:805, 1982.
Opitz JM: What the general pediatrician should know about human anomalies. Pediatr Rev 3(9):267, 1982.
Lemoine P, Harrousseau H, Borteyru JP, Menuet JC: Les enfants de parents alcoholiques. Ouest Med 21:476, 1968.
Smith DW: The fetal alcohol syndrome. Hosp Pract [off] 10:121, 1979.
Herrmann J, Pallister PD, Opitz JM: Tetraectrodactyly and other skeletal manifestations in the fetal alcohol syndrome. Eur J Pediatr 133:211, 1980.
Jones KL, Smith DW, Streissguth AP, Myrianthopoulous NC: Outcome in offspring of chronic alcoholic women. Lancet i:1076, 1974.
Jones KL, Smith DW, Ulleland CN, Streissguth AP: Pattern of malformation in offspring of chronic alcholic mothers. Lancet i:1267, 1973.
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.
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.
Clarren SK, Smith DW: The fetal alcohol syndrome. N Engl J Med 298:1063, 1978.
Comess LJ, Bennett PH, Man MB, Burch TA, Miller M: Congenital anomalies and diabetes in the Pirna Indians of Arizona. Diabetes 18:471, 1967.
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.
Krous HF, Richie JP, Sellers B: Glomerulocystic kidney: A hypothesis of origin and pathogenesis. Arch Pathol Lab Med 101:462, 1977.
Kucera J, Lenz W, Maier W: Missbildungen der Beine und der kaudalen Wirbelsäule bei Kindern diabetischer Mütter. Dtsch Med Wochenschr 90:901, 1965.
Passarge E: Congenital malformations and maternal diabetes. Lancet i:324, 1965.
Rusnak SL, Driscoll SG: Congenital spinal anomalies in infants of diabetic mothers. Pediatrics 35:989, 1965.
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.
Crawfurd MDA, Ismail SR, Wigglesworth JS: A monopodal sireniform monster with dermatoglyphic and cytogenetic studies. J Med Genet 3:212, 1966.
Duhamel B: From the mermaid to anal imperforation: the syndrome of caudal regression. Arch Dis Child 36:152, 1961.
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.
Becker MH, Genieser MB, Finegold M, Miranda D, Spackman T: Chondrodysplasia punctata. Is maternal warfarin a factor? Am J Dis Child 129:356, 1975.
Hall JG: Embryopathy associated with oral anticoagulant therapy. Birth Defects 12(5):33, 1965.
Pettifor JM, Benson R: Congenital malformations associated with the administration of oral anticoagulants during pregnancy. J Pediatr 86:459, 1975.
Shaul WL, Emery H, Hall JG: Chondrodysplasia punctata and maternal warfarin use during pregnancy. Am J Dis Child 129:360, 1975.
Shaul WL, Hall JG: Multiple congenital anomalies associated with oral anticoagulants. Am J Obstet Gynecol 127:191, 1977.
Warkany J: A warfarin embryopathy? Am J Dis Child 129:287, 1975.
Warkany J, Bofinger M: Le role de la Coumadine dans les malformations congenitales. Med Hyg 33:1454, 1975.
Hall JG, Pauli RM, Wilson KM: Maternal and fetal sequelae of anticoagulation during pregnancy. Am J Med 68:122, 1980.
Lutz DJ, Noller KL, Spittell JA, et al.: Pregnancy and its complications following cardiac valve prosthesis. Submitted.
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.
McBride WG: Thalidomide and congenital abnormalities. Lancet ii:1358, 1961.
Nowack E: Die sensible phase bei der Thalidomid-Embryopathie. Humangenetik 1:516, 1965.
Sommer A, Contras SG, Graenen JM, Hosier DM: A family study of the Leopard syndrome. Am J Dis Child 121:520, 1971.
Delahunt CS, Lassen LJ: Thalidomide syndrome in monkeys. Science 146:1300, 1964.
Wilson JG, Gavan JA: Congenital malformations in nonhuman primates: Spontaneous and experimentally induced. Anat Rec 158:99, 1967.
Lenz W: Malformations caused by drugs in pregnancy. Am J Dis Child 112:99, 1966.
Weicker H: 100 children with thalidomide embryopathy. Presented at XIth International Congress of Pediatrics, 1965.
Smithells RW: Drugs and human malformations. In: Woolam DHM (ed): Advances in Teratology. New York: Academic Press, 1966.
Hauke H, Weicker H: Thalidomid-Embryopathie: V. die nierenfehlbildungen. Deutsche Med Wschnschr 90:2200, 1965.
Kreipe U: Missbildungen innerer Organe bei Thalidomid-Embryopathie. Arch Minderh 176:33, 1967.
Lenz W: Das Thalidomid-Syndrom. Fortschr Med 81:148, 1963.
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.
McCredie J: Thalidomide and congenital Charcot joints. Lancet ii:1058, 1973.
McCredie J: Embryonic neuropathy. A hypothesis of neural crest injury as he pathogenesis of congenital malformations. Med J Aust 1:159, 1974.
McCredie J: Congenital fusion of bones: radiology, embryology and pathogenesis. Clin Radiol 26:47, 1975.
McCredie J: The action of thalidomide on the peripheral nervous system of the embryo. Proc Aust Assoc Neurol 12:135, 1975.
McCredie J: Segmental embryonic peripheral neuropathy. Pediatr Radiol 3:162, 1975.
McCredie J: Neural crest defects. A neuroanatomic basis for classification of multiple malformations related to focomelia. J Neurol Sci 28:373, 1976.
McCredie J, McBride WG: Some congenital abnormalities possibly due to embryonic peripheral neuropathy. Clin Radiol 24:204, 1973.
Özer FL: Kidney malformations in mongolism. Birth Defects 10(4):189, 1974.
Berg JM, Crome L, France NE: Congenital cardiac malformations in mongolism. Br Heart J 22:331–346, 1960.
Rissane JM: Congenital anomalies. In: Pathology of Infancy and Childhood, 2nd ed. St. Louis: C.V. Mosby, 1975, pp. 577.
Benda CA: The Child with Mongolism (Congenital Acromicria). New York: Grune and Stratton, 1960.
Bersu ET: Anatomical analysis of the developmental effects of aneuploidy in man: The Down syndrome. Am J Med Genet 5:399, 1980.
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.
Egli F, Stalder G: Malformations of kidney and urinary tract in common chromosomal aberrations. I. Clinical studies. Humangenetik 18:1–15, 1973.
Warkany J, Passarge E, Smith LB: Congenital malformations in autosomal trisomy syndromes. Am J Dis Child 112:502, 1966.
Berry PJ: Congenital tumors. IN: Keeling JW (ed): Fetal and Neonatal Pathology. New York: Springer Verlag, 1987, p. 239.
Uchida IA, Bowman JM, Wang HC: The 18-trisomy syndrome. N Engl J Med 266:1198, 1962.
Bove KE, Koffler H, McAdams AJ: Nodular renal blastema. Definition and possible significance. Cancer 24:323, 1969.
Pettersen JC: Anatomical studies of a boy trisomic for the distal portion of 13q. Am J Med Genet 4:383, 1979.
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.
Mottet NK, Jensen H: The anomalous embryonic development associated with trisomy 13–15. Am J Clin Pathol 43:334, 1965.
Baxter TJ: Cysts arising in the renal tubules: a microdissection study. Arch Dis Child 40:464, 1965.
Karayalcin G, Shanske A, Honigman R: Wilms’ tumor in a 13-year-old girl with Trisomy 18. Am J Dis Child 135:665, 1981.
Townes PL, Dehart GK Jr, Hecht F, Manning JA: Trisomy 13–15 in a male infant. J Pediatr 60:528, 1962.
Patau K, Smith DW, Therman E, Inhorn SL, Wagner HP: Multiple congenital anomaly caused by extra autosome. Lancet i:790, 1960.
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.
Smith DW, Patau K, Therman E, Inhorn SL, DeMars RI: The 13–15 trisomy syndrome. J Pediatr 62:326, 1963.
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.
Crandall BF, Bass HN, Marcy SM: The trisomy 8 syndrome: two additional mosaic cases. J Med Genet 11:393, 1974.
Riccardi VM: Trisomy 8: an international study of 70 patients. Birth Defects 13(3C):171, 1977.
Walravens PA, Greensher A, Sparks JW, Wesenberg RL: Trisomy 8 mosaicism. Am J Dis Child 128:564, 1974.
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.
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.
Juberg RC, Gilbert EF, Salisbury RS: Trisomy C in an infant with polycystic kidneys and other malformations. J Pediatr 76:598, 1970.
Blair JD: Trisomy C and cystic dysplasia of kidneys, liver and pancreas. Birth Defects 12(5):139, 1976.
Feingold M, Atkins L: A case of trisomy 9. J Med Genet 10:184, 1973.
Francke U: Personal communication.
Francke U, Benirschke K, Jones OW: Prenatal diagnosis of trisomy 9. Humangenetik 29:243, 1975.
Mantagos S, McReynolds JW, Seashore MR, Berg WR: Complete trisomy 9 in two liveborn infants. J Med Genet 18:377, 1981.
Haslam RHA, Broske SP, Moore CM, Thomas GH, Neill CA: Trisomy 9 mosaicism with multiple congenital anomalies. J Med Genet 10:180, 1973.
Bowen P, Ying KL, Chung GSH: Trisomy 9 mosaicism in a newborn infant with multiple malformations. J Pediatr 85:95, 1974.
Niebuhr E: Triploidy in man: Cytogenetical and clinical aspects. Humangenetik 21:103, 1974.
Carr DH: Chromosomal studies in selected spontaneous abortions. Polyploidy in man. J Med Genet 8:164, 1971.
Book JA, Santesson B: Malformation syndrome in man associated with triploidy (69 chromosomes). Lancet i:858, 1960.
Toaff R, Toaff ME, Pevser MR: Mid-trimester pre-eclamptic toxemia in triploid pregnancies. Isr J Med Sci 12:234, 1976.
Zellweger H, Simpson J: Chromosomes of Man. Philadelphia: J.B. Lippincott, 1977.
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.
Graham JM, Hoehn H, Lin MS, Smith DW: Diploid-triploid mixoploidy: clinical and cytogenetic features. Pediatrics 68:23, 1981.
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.
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.
Tarkanen A, Merenmies L, Rapola J: Ocular pathology in triploidy (69, XXY). Ophthalmologica 163:90, 1971.
Wertelecki W, Graham JM, Sergovich FR: The clinical syndrome of triploidy. Obstet Gynecol 47:69, 1976.
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.
Poland BJ, Bailie DL: Cell ploidy in molar placental disease. Teratology 18:353, 1978.
Szulman AE, Philippe E, Boue JG, Boue A: Human triploidy: association with partial hydatidiform moles and nonmolar conceptuses. Hum Pathol 12:1016, 1981.
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.
Arias D, Passarge E, Engle MA, German J: Human chromosomal deletion: two patients with the 4p-syndrome. J Pediatr 76:82–88, 1970.
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.
Passarge E, Altrogge HC, Rudiger RA: Human chromosomal deficiency: The 4p-syndrome. Humangenetik 10:51–57, 1970.
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.
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.
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.
Wertelecki W, Graham JM, Sergovich FR: The clinical syndrome of triploidy. Obstet Gynecol 47:69, 1976.
Francke U: Partial duplication 20p. In: Yunis JJ (ed): New Chromosomal Syndromes. New York: Academic Press, 1977.
Schinzel A: Trisomy 20pter-qll in a malformed boy from a 5(13:20) (p11:q11) translocation carrier mother. Hum Genet 53:169, 1980.
Alfi OS, Donnell GN, Allderdice PW, Derencsenyi A: The 9p-syndrome. Ann Genet 19:11, 1976.
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.
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.
Centerwall WR, Beatty-DeSana JW: The trisomy 9p syndrome. Pediatrics 56:748, 1975.
Centerwall WR, Miller KS, Reeves LM: Familial “partial 9p” trisomy: six cases and four carriers in three generations. J Med Genet 13:57, 1976.
Schinzel A: Trisomy 9p, a chromosome aberration with distinct radiologic findings. Radiology 130:125, 1979.
Franke U, Holmes LB, Atkins L, Riccardi VM: Aniridia-Wilms’ tumor association: evidence for specific deletion of llpl3. Cytogenet Cell Genet 24:185, 1979.
Hittner HM, Riccardi VM, Francke U: Aniridia caused by a heritable chromosome 11 deletion. Ophthalmology 86:1173, 1979.
Slater RM, de Kraker J: Chromosome number 11 and Wilms’ tumor. Cancer Genet Cytogenet 5:237, 1982.
Miller RW: Birth defects and cancer due to small chromosomal deletions. J Pediatr 96:1031, 1980.
Riccardi VM, Sujansky E, Smith AC, Francke U: Chromosomal imbalance in aniridia-Wilms tumor association: 11p interstitial deletion. Pediatrics 61:604, 1978.
Shannon RS, Mann JR, Harper E, Harnden DG, Morten JE, Herbert A: Wilms’ tumor and cytogenetic features. Arch Dis Child 57:685, 1982.
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.
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.
Bove KE, McAdams AJ: The nephroblastomatosis complex and its relationship to Wilms’ tumor: A clinicopathological treatise. Perspect Pediatr Pathol 3:185, 1976.
Daube JR, Chou SM: Lissencephaly: Two cases. Neurology 16:1979, 1966.
Dieker H, Edwards RH, ZuRhein G, Chou SM, Hartman HA, Opitz JM: The lissencephaly syndrome. Birth Defects 5(2):53, 1969.
Garcia CA, Dunn D, Trevor R: The lissencephaly (agyria) syndrome in siblings: Computerized tomographic and neuropathologic findings. Arch Neurol 35:608, 1978.
Hanaway J, Lee SI, Netsky MG: Pachygyria: Relation of findings to modern embryologic concepts. Neurology 18:791, 1968.
Jellinger K, Rett A: Agyria-pachygyria (lissencephaly syndrome). Neuropediatrics 7:66, 1976.
Jones KL, Gilbert EF, KAveggia EG, Opitz JM: The Miller-Dieker syndrome. Pediatrics 66:277, 1980.
Miller JO: Lissencephaly in two siblings. Neurology 13:841, 1963.
Norman MG, Roberts M, Sirois J, Tremblay LJM: Lissencephaly. J Can Sci Neurol 3:39, 1976.
Potter EL: Bilateral renal agenesis. J Pediatr 29:68, 1946.
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.
Van Allen M, Clarren SK: A spectrum of gyral anomalies in Miller-Dieker (lissencephaly) syndrome. J Pediatr 102:559, 1983.
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.
Dobyns WB, Stratton RF, Parke JT, Greenberg F, Nussbaum RL, Ledbetter DH: Miller-Dieker syndrome: Lissencephaly and monosomy 17p. J Pediatr 102:552, 1983.
Van Allen M, Clarren Sk: A spectrum of gyral anomalies in Miller-Dieker (lissencephaly) syndrome. J Pediatr 102:559, 1983.
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.
Schachenmann G, Schmid W, Fraccaro M, Mannini A, Tiepolo L, Perona GP, Sartori E: Chromosomes in coloboma and anal atresia. Lancet ii:290, 1965.
Gerald PS, Davis C, Say B, Wilkins J: Syndromal association of imperforate anus: the cat eye syndrome. Birth Defects 8(2):79–84, 1972.
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.
Francke U: Quinacrine mustard fluorescence of human chromosomes: characterization of unusual translocations. Am J Hum Genet 24:189, 1972.
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.
Laurent C, Bovier-Lapierre M, Dutrillauz B: Trisomie 10 partielle par translocation familiale t(l:10) (q44, q22). Humanqenetik 18:321, 1973.
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.
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.
Dallapiccola B, Mastroiacovo PP, Montali E, Sommer A: Trisomy 4p: five new observations and overview. Clin Genet 12:344, 1977.
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.
Schinzel A: Catalog of Unbalanced Chromosome Aberrations in Man. New York: DeGruyter, 1984.
Francke U: Partial duplication 20p. In: Yunis JJ (ed): New Chromosomal Syndromes. New York: Academic Press, 1977.
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.
Brook CGD, Mürset G, Zachmann M, Prader A: Growth in children with 45, XO Turner’s syndrome. Arch Dis Child 49:789, 1974.
De la Chapella A: Cytogenetical and clinical observations in female gonadal dysgenesis. Acta Endocrinol Suppl 65:1, 1962.
Lindsten J: The Nature and Origin of X Chromosome Aberrations in Turner’s Syndrome. Stockholm: Almqvist and Wiksell, 1963.
Rössle RI, Wachstum, Altern, München: Hypertrophie und atrophie. Jahresk f arztl forthild XIII: 13, 1972.
Turner HH: A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology 23:566, 1938.
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.
Cleeve DM, Older RA, Cleeve LK, Bredael JJ: Retrocaval ureter in Turner syndrome. Urology 13:544, 1979.
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.
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.
Cote GB, Tsomi K, Papadakou-Lagoyanni S, Petmezaki S: Oligohydramnios syndrome and XYY karyotype. Ann Genet 121:226, 1978.
Schmidt R, Pajewski M, Rosenblatt M: Epiphyseal dysplasia: a constant finding in XXXXY syndrome. J Med Genet 15:282, 1978.
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.
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.
Li FP, Marchetto DJ, Brown RS: Familial renal carcinoma. Cancer Genet Cytogenet 7:271, 1982.
Rott HD, Schwantiz G, Grosse KP, Alexandrow G, Hagele C: C11/D13-translocation in four generations. Hum Genet 14:300, 1972.
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1990 Kluwer Academic Publishers
About this chapter
Cite this chapter
Gilbert-Barness, E.F., Opitz, J.M., Barness, L.A. (1990). Heritable Malformations of the Kidney and Urinary Tract. In: Spitzer, A., Avner, E.D. (eds) Inheritance of Kidney and Urinary Tract Diseases. Topics in Renal Medicine, vol 9. Springer, Boston, MA. https://doi.org/10.1007/978-1-4613-1603-9_17
Download citation
DOI: https://doi.org/10.1007/978-1-4613-1603-9_17
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4612-8887-9
Online ISBN: 978-1-4613-1603-9
eBook Packages: Springer Book Archive