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Klinische Krankheitsbilder mit urologischen und genitalen Fehbildungen: Felddefekte — Sequenzen — Syndrome — Symptomenkomplexe — Assoziationen

  • J. Kunze
  • J. Mücke

Zusammenfassung

Kinder und Jugendliche mit urogenitalen Auffälligkeiten sollten diagnostisch von Kinderärzten mit klinisch-genetischer, endokrinologischer und nephrologischer Spezialisierung untersucht, diagnostiziert und therapiert warden. Der dramatische Zuwachs an definierten Fehlbindungs-Syndomen kann nur in Spezialabteilungen aufgefangen werden.

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Literatur

Nachschlagewerken

  1. Jones KL (1997) Smith’s recognizable patterns of human malformation, 5th edn. Saunders, PhiladelphiaGoogle Scholar
  2. Gorlin RJ, Cohen MM jr, Levin LS (1990)Syndromes of head and neck. Oxford University Press, New YorkGoogle Scholar
  3. Buyse ML (1990) Birth defects encyclopedia. Center for Birth Defects Information Sevices, DoverGoogle Scholar
  4. Wiedemann HR, Kunze J (1995) Altas der Klinischen Syndrome.Schattauer-Verlag StuttgartGoogle Scholar

Expertensuchsysteme

  1. POSSUM, Version 5.0 and 5.1 (2 CD-ROM) for Windows 95,98 and NT (1998) Computer Power Group an die Murdoch Institute. Royal Children’s Hospital, MelbourneGoogle Scholar
  2. Winter R, Baraitser M (1998) London Dysmorphology Database 2.1 (2 CD-ROM). Oxford University PressGoogle Scholar
  3. Adler, Burg G, Kunze J, Pongratz D, Schinzel A. Spranger J (1997) LIEBER—die klinischen Syndrome (CD-ROM), 8.Aufl.Urban & Schwarzenberg, München OMIM-Online Mendelian Inheritance in Man: http://www3.ncbi.nlm.nih.gov/omim Google Scholar
  1. Porteous MEM, Goodie DR (1995). In: Donnai D, Winter RM (eds) Congenital malformation syndromes. Chapman & Hall Medical, London, pp 106–111Google Scholar
  2. Wiedemann H-R, Kunze J (1995) Altas der Klinischen Syndrome für Klinik und Praxis, 4. Aufl. Schattauer, Stuttgart New York, S 216–217Google Scholar
  3. Wiedemann H-R, Kunze J (1995) Altas der Klinischen Syndrome für Klinik und Praxis, 4. Aufl. Schattauer, Stuttgart New York, S 626–627Google Scholar
  4. Grüters H (1996) z. In: Adler G, Burg G, Kunze J et al. (Hrsg) Lieber—Die klinischen Syndrome. Urban & Schwarzenberg, München, S 13–15Google Scholar
  5. Wiedemann H-R, Kunze J (1995) Altas der Klinischen Syndrome für Klinik and Praxis, 4. Aufl. Schattauer, Stuttgart New York, S 626–627Google Scholar
  6. Kennerknecht I, Sorgo W, Oberhoffer R et al. (1993) Familial occurence of agonadism and multiple internal malformations in phenotypically normal girls with 46,XY and 46,XX karyotypes,respectively: a new autosomal recessive syndrome. Am J Med Genet 47: 1166–1170PubMedGoogle Scholar
  7. Kennerknecht I, Mattfeld T, Paulus W et al. (1997) XX-Agondism in a fetus with multiple dysraphic lesions: a new syndrome. Am J Med Genet 70: 413–414PubMedGoogle Scholar
  8. Gorlin RJ, Cohen MM jr, Levin LS (1990) Syndromes of the head and neck. Oxford Univ Press, New York Oxford, pp 565–568Google Scholar
  9. Yunis JJ, Ramsay KC (1980) Familial occurrence of the aniridia—Wilms tumor syndrome weith deletion 11p13–14.1. J Pediatr 96: 1027–1030PubMedGoogle Scholar
  10. Turleau C, Grouchy J de, Tournade MF et al. (1984) Del 11p/aniridia complex: report of three patients and review of 37 observations from the literature. Clin Genet 26:356–362PubMedGoogle Scholar
  11. Wiedemann H-R, Kunze J (1995) Altas der Klinischen Syndrome für Klinik und Praxis, 4. Aufl. Schattauer, Stuttgart New York, S 524–527Google Scholar
  12. Splitt MP, Burn J, Goodshipp J (1996) Defects in the determination of the left-right asymmetry. J Med Genet 33:498–503PubMedGoogle Scholar
  13. Gibbons RJ, Wilkie AOM, Weatherall DJ et al. (1995) A newly defined X-linked mental retardation syndrome associated with a a-thallasaemia. In: Donnai D, Winter RM (eds) Congenital malformation syndromes. Chapman & Hall Medical, London, pp 51–57Google Scholar
  14. Wilkie, AOM, Gibbons RJ, Higgs DR (1995) X-linked a-thallsaemia/mental retardation: spectrum of clinical features in three related males. In: Donnai D, Winter RM (eds) Congenital malformation syndromes. Chapman & Hall Medical, London, pp 58–63Google Scholar
  15. Gibbons RJ, Brueton L, Buckle VJ et al. (1995) Clinical and hematologic. aspects of the X-linked a-thalassemia/mental retardation syndrome (ATR-X). Am J Med Genet 55: 288–299PubMedGoogle Scholar
  16. Fuentes FJR, Nicholson L, Scott CJ jr (1994) Phenotypic variability in the Baller-Gerold syndrome: report a mildly affected patient and review of the literature. Eur J Pediatr 153: 483–487Google Scholar
  17. Cohen MM jr, Toriello HV (1996) Is there a Baller-Gerold syndrome? Am J Med Genet 61:63–64PubMedGoogle Scholar
  18. Jones KL (1997) Smith’s recognizable patterns of human malformations. 5th edn. Saunders, Philadelphia, pp 590–591Google Scholar
  19. Beales PL, Warner AM, Hitman GA et al. (1997) Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families. J Med Genet 34: 92–98PubMedGoogle Scholar
  20. Stein R, Hohenfellner K, Fisch M et al. (1996) Social integration, sexual bahavior and fertility in patients with bladder exstrophy—a long term follo up. Eur J Pediat 155: 678–683Google Scholar
  21. Jones KL (1997) Smith’s recognizable patterns of human malformations. 5th edn. Saunders, Philadelphia, pp 584–585Google Scholar
  22. König R, Fuchs S, Dukiet C (1994) Branchio-Oto-Renal (BOR) syndrome: variable expressivity in a five-generation pedigree. Eur J Pediatr 153: 446–450PubMedGoogle Scholar
  23. Chen A, Francis M, Ni L et al. (1995) Phenotypic manifestations of branchiootorenal syndrome. Am J Med Genet 58: 365–370PubMedGoogle Scholar
  24. Jones KL (1997) Smith’s recognizable patterns of human malformation. 5th edn. Saunders, Philadelphia, pp 424–425Google Scholar
  25. Wiedemann H-R, Kunze J (1995) Altas der Klinischen Syndrome für Klinik und Praxis, 4. Aufl. Schattauer, Stuttgart, S 626–627Google Scholar
  26. Wiedemann H-R, Kunze J (1995) Altas der Klinischen Syndrome für Klinik and Praxis, 4. Aufl. Schattauer, Stuttgart New York, S 344–345Google Scholar
  27. Duncan PA, Shapiro LR, Klein RM (1991) Sacrococcygeal dysgenesis association. Am J Med Genet 41: 153–161PubMedGoogle Scholar
  28. Udler Y, Halpern GJ, Sher C et al. (1997) Further delineation of cerebro-osteo-nephrosis syndrome. Am J Med Genet 72: 383–385PubMedGoogle Scholar
  29. Lowry RB (1997) A further case of Hutterite cerebro-osteo-nephrodysplasia. Am J Med Genet 72: 386PubMedGoogle Scholar
  30. Wiedemann H-R, Kunze J (1995) Altas der Klinischen Syndrome für Klinik and Praxis, 4. Aufl. Schattauer, Stuttgart New York, S 344–345Google Scholar
  31. Zollino M, Bova R, Neri G (1996) From Pitt-Rogers-Danks syndrome to Wolf-Hirschhorn syndrome and back? Am J Med Genet 66: 113–115PubMedGoogle Scholar
  32. Jones KL (1997) Smith’s recognizable patterns of human malformation. 5th edn. Saunders, Philadelphia, pp 47–49Google Scholar
  33. Hertz JM, Tommerup N, Sørensen FB et al. (1995) Partial deletion 11 q: report of u case with a large terminal deletion 11 q21-qter without loss of telomeric sequences, and review of the literature. Clin Genet 47: 231–235PubMedGoogle Scholar
  34. Jones KL (1997) Smith’s recognizable patterns of human malformation. 5th edn. Saunders, Philadelphia, pp 60–61Google Scholar
  35. Brown S, Gersen S, Anyaneyeboa K et al. (1993) Preliminary definition of a »critical region« of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature. Am J Med Genet 45: 52–59PubMedGoogle Scholar
  36. Jones KL (1997) Smith’s recognizable patterns of human malformation. 5th edn. Saunders, Philadelphia, pp 66–67Google Scholar
  37. Strathdee G, Zackai EH, Shapiro R et al. (1995) Analysis of clinical variation seen in patients with 18q terminal deletions. Am J Med Genet 59: 476–483PubMedGoogle Scholar
  38. Jones KL (1997) Smith’s recognizable patterns of human malformation. 5th edn. Saunders, Philadelphia, pp 628–629Google Scholar
  39. Jones KL (1997) Smith’s recognizable Patterns of Human Malformation. 5th edn. Saunders, Philadelphia, pp 294–295Google Scholar
  40. Wiedemann H-R, Kunze J (1995) Altas der klinischen Syndrome für Klinik and Praxis, 4. Aufl. Schattauer, Stuttgart, S 448–449Google Scholar
  41. Majewski F (1996) Clinical symptoms in patients with fetal alcohol syndrome In: Spohr H-L, Steinhausen H-C (eds) Alcohol, pregnancy and the developing child. Cambridge Univ Press, Cambridge, pp 15–39Google Scholar
  42. Koussef BG (1999) Gestational diabetes mellitus (class A): A human teratogen? Am J Med Genet 83: 402–408Google Scholar
  43. Martinez-Frias ML (1994) Epidemiological analysis of outcomes in diabeits mothers: identification of the most characteristics and most congenital anomalies. Am J Med Genet 51: 108–113PubMedGoogle Scholar
  44. Wiedemann H-R, Kunze J (1995) Altas der klinischen Syndrome für Klinik und Praxis, 4. Aufl. Schattauer, Stuttgart New York, S 512–513Google Scholar
  45. Giampietro PF, Verlander PC, Davis JG et al. (1997) Diagnosis of Fanconi anemia in patients without congenital malformations: an international Fanconi anemia registry study. Am J Med Genet 68: 58–61PubMedGoogle Scholar
  46. Thompson E, Baraitser M (1995) FG syndrome. In: Donnai D, Winter RM (eds) Congenital malformation syndromes. Chapman & Hall Medical, London, pp 28–34Google Scholar
  47. Wiedemann H-R, Kunze J (1995) Altas der klinischen Syndrome für Klinik und Praxis, 4. Aufl. Schattauer, Stuttgart, S 112–113Google Scholar
  48. Jones KL (1997) Smith’s recognizable patterns of human malformation. 5th edn. Saunders, Philadelphia, pp 150–153Google Scholar
  49. Gattuso J, Patton MA, Baraitser M (1995) The clinical spectrum of the Fraser syndrome: report of three new cases and review. In: Donnai D, Winter RM (eds) Congenital malformation syndromes. Chapman & Hall Medical, London, pp 518–527Google Scholar
  50. Fryns J-P (1995) Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face and distal limb hypoplasia. In: Donnai D, Winter RM (eds) Congenital malformation syndromes. Chapman & Hall Medical, London, pp 514–517Google Scholar
  51. Salonen R, Herva R (1995) Hydrolethalus syndrome. In: Donnai D, Winter RM (eds) Congenital malformations syndromes. Chapman & Hall Medical, London, pp 508–513Google Scholar
  52. Jones KL (1997) Smith–s recognizable patterns of human malformation. 5th edn. Saunders, Philadelphia, pp 132–133Google Scholar
  53. Stevens CA, Wilroy RS jr (1995) Telecanthus-hypospadias syndrome. In: Donnai D, Winter RM (eds) Congenital malformation syndromes. Chapman & Hall, London, pp 95–105Google Scholar
  54. Jones KL (1997) Smith’s recognizable patterns of human malformation. 5th edn. Saunders, Philadelphia, S. 340–341Google Scholar
  55. Wiedemann H-R, Kunze J (1995) Altas der Klinischen Syndrome für Klinik und Praxis, 4.Aufl. Schattauer, Stuttgart New York, S 250–251Google Scholar
  56. Hurst JA, Baraitser M (1995) Johanson-Blizzard syndrome. In: Donnai D, Winter RM (eds) Congenital malformation syndromes. Chapman & Hall, London, pp 125–130Google Scholar
  57. Wiedemann H-R, Kunze J (1995) Altas der Klinischen Syndrome für Klinik und Praxis, 4.Aufl. Schattauer, Stuttgart New York, S 632–633Google Scholar
  58. Kirk JMW, Grant DB, Besser GM et al. (1994) Unilateral renal aplasia in X-linked Kallmann’s syndrome. Clin Genet 46: 260–262PubMedGoogle Scholar
  59. Wiedemann H-R, Kunze J (1995) Altas der Klinischen Syndrome für Klinik und Praxis, 4.Aufl. Schattauer, Stuttgart New York, S 634–635Google Scholar
  60. Wiedemann H-R, Kunze J (1995) Altas der Klinischen Syndrome für Klinik und Praxis, 4.Aufl. Schattauer, Stuttgart New York, S 334–335Google Scholar
  61. Spranger J, Maroteaux P (1990) The lethal osteochondrodysplasias. In: Harris H, Hirschhorn K (eds) Advances in human genetics 19. Plenum, New York London, pp 1–103Google Scholar
  62. Spranger J, Maroteaux P (1990) The lethal osteochondrodysplasias. In: Harris H, Hirschhorn K (eds) Advances in human genetics 19. Plenum, New York London, pp 1–103Google Scholar
  63. Wiedemann H-R, Kunze J (1995) Altas der Klinischen Syndrome für Klinik und Praxis, 4. Aufl. Schattauer, Stuttgart New York, S 382–383Google Scholar
  64. Özkinay FF, Özkinay C, Yüksel H et al. (1997) A case of Lenz microphthalmie syndrome. J Med Genet 34: 604–606PubMedGoogle Scholar
  65. Coppin BD,Temple JK (1997) Multiple lentigines syndrome (LEOPARD syndrome) or progressive cardiomyopathic lentiginosis. J Med Genet 34: 582–586PubMedGoogle Scholar
  66. Froster UG, Stallmach T, Wisser J et al. (1997) Lethal multiple pterygium. syndrome: Suggestion for a consistent pathological workup and review of reported cases. Am J Med Genet 68: 82–85PubMedGoogle Scholar
  67. Russo R, D’Armiento M, Angrisani P et al. (1993) Limb body wall complex: a critical review and a nosological proposal. Am J Med Genet 47: 893–900PubMedGoogle Scholar
  68. Pul N, Gedik Y (1994) McKusick-Kaufman syndrome associated with esophagealatresia and distal tracheoesophageal fistula: a case report and review of the literature. Am J Med Genet 49: 341–343PubMedGoogle Scholar
  69. Unsinn KM, Neu N, Krejci A et al. (1995) Pallister-Hall syndrome and McKusick-Kaufman syndrome: one entity. J Med Genet 32: 125–128PubMedGoogle Scholar
  70. Jones KL (1997) Smith’s recognizable Patterns s of Human Malformation. 5th edition. W. B. Saunders Company Philadelphia—London—Toronto—Montreal—Sydney—Tokyo, S. 184–185Google Scholar
  71. Jones KL (1997) Smith’s recognizable patterns of human malformation. 5th edn. Saunders, Philadelphia, S. 194–195Google Scholar
  72. Thompson E, Donnai D, Baraitser M et al. (1995) Multiple pterygium syndrome: evolution of the phenotype. In: Donnai D, Winter RM (Hrsg) Congenital Malformation Syndromes. Chapman & Hall, London, S. 543–562Google Scholar
  73. Jones KL (1997) Smith’s recognizable patterns of human malformation. 5th edn. Saunders, Philadelphia—London—Toronto—Montreal—Sydney—Tokyo, S. 666–667Google Scholar
  74. Braun-Quentin C, Billes C, Böwing B et al. (1996) MURCS association: case report and review. J Med Genet 33: 618–620PubMedGoogle Scholar
  75. Jones KL (1997) Smith’s recognizable Patterns of Human Malformation. 5th edition. W. B. Saunders Company Philadelphia—London—Toronto—Montreal—Sydney—Tokyo, S. 438–439Google Scholar
  76. McIntosh I, Clough MV, Schäffer AA et al. (1997) Fine mapping of the nail-patella syndrome locus at 9q34. Am J Hum Genet 60: 133–142PubMedGoogle Scholar
  77. Mendez HMM, Opitz JM (1985) Noonan syndrome: a review. Am J Med Genet 21: 493–506PubMedGoogle Scholar
  78. Jones KL (1997) Smith’s recognizable Patterns of Human Malformation. 5th edition. W. B. Saunders Company Philadelphia—London—Toronto—Montreal—Sydney—Tokyo, S. 132–133Google Scholar
  79. Wiedemann H-R, Kunze J (1995) Altas der Klinischen Syndrome für Klinik und Praxis, 4.Aufl. Schattauer-Verlag Stuttgart—New York, S. 440–441Google Scholar
  80. Stevens CA, Wilroy RS Jun (1995) Telecanthus-hypospadias syndrome: In: Donnai D, Winter RM (Hrsg.) Congenital Malformation Syndromes. Chapman and Hall Medical. London—Glasgow—Weinheim—New York—Tokyo—Melbourne—Madras, S. 95–105Google Scholar
  81. Jones KL (1997) Smith’s recognizable Patterns of Human Malformation. 5th edition. W. B. Saunders Company Philadelphia—London—Toronto—Montreal—Sydney—Tokyo, S. 262–263Google Scholar
  82. Kang S, Allen J, Graham JM Jr, Grebe T et al. (1997) Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome. J Med Genet 34: 441–446PubMedGoogle Scholar
  83. Wiedemann H-R, Kunze J (1995) Altas der Klinischen Syndrome für Klinik und Praxis, 4. Aufl. Schattauer-Verlag, Stuttgart—New York, S 656–657Google Scholar
  84. Wiedemann H-R, Kunze J (1995) Altas der Klinischen Syndrome für Klinik und Praxis, 4. Aufl. Schattauer-Verlag, Stuttgart—New York, S 236–237Google Scholar
  85. Hunter A (1990) The popliteal syndrome: report of a new family and review of the literature. Am J Med Genet 36: 196–208PubMedGoogle Scholar
  86. Froster UG (1995) Popliteal pterygium syndrome. In: Donnai D, Winter RM (eds) Congenital Malformation Syndromes. Chapman and Hall Medical. London—Glasgow—Weinheim—New York— Tokyo—Melbourne—Madras, S. 531–542Google Scholar
  87. Jones KL (1997) Smith’s recognizable Patterns of Human Malformation. 5th edition. W. B. Saunders Company Philadelphia—London—Toronto—Montreal—Sydney—Tokyo, S. 632–633Google Scholar
  88. Cassidy SB (1997) Prader-Willi syndrome. J Med Genet 34: 917–923PubMedGoogle Scholar
  89. Wiedemann H-R, Kunze J (1995) Altas der Klinischen Syndrome für Klinik und Praxis, 4. Auflage. Schattauer-Verlag Stuttgart—New York, S. 402–405Google Scholar
  90. Belohradsky BH, Henkel C (1984) Das Prune-belly-Syndrom. In: Brandis M, Fanconi A, Frick P et al. (Hrsg.) Ergebnisse der Inneren Medizin and Kinderheilkunde 52, Springer-Verlag Berlin—Heidelberg—New York—London—Paris—Tokyo—Hong Kong—Barcelona—Budapest S. 157–205Google Scholar
  91. Wiedemann H-R, Kunze J (1995) Altas der Klinischen Syndrome für Klinik und Praxis, 4. Auflage. Schattauer-Verlag Stuttgart—New York, S. 338–339Google Scholar
  92. Moerman P, Fryns J-P (1996) Ectodermal dysplasia, Rapp-Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child. Am J Med Genet 63: 479–481PubMedGoogle Scholar
  93. Jones KL (1997) Smith’s recognizable Patterns of Human Malformation. 5th edition. W. B. Saunders Company Philadelphia—London—Toronto—Montreal—Sydney—Tokyo, S. 592–593Google Scholar
  94. Berg DJ von den, Francke U (1993) Roberts syndrome: a review of 100 cases and a new rating system for severity. Am J Med Genet 47: 1104–1123Google Scholar
  95. Wiedemann H-R, Kunze J (1995) Altas der Klinischen Syndrome für Klinik und Praxis, 4. Auflage. Schattauer-Verlag Stuttgart—New York, S. 426–427Google Scholar
  96. Robinow M (1993) The Robinow (fetal face) syndrome: a continuing puzzle. Clin Dysmorphol 2: 189–198PubMedGoogle Scholar
  97. Aksit S, Aydinlioglu H, Dizdarer G et al. (1997) Is the frequency of Robinow syndrome relatively high in Turkey? Four more case reports. Clin Genet 52: 226–230PubMedGoogle Scholar
  98. Rubinstein JH (1990) Broad thumb-hallux (Rubinstein Taybi) syndrome 1957–1988. Am J Med Genet Suppl 6: 3–16Google Scholar
  99. Wallerstein R, Anderson CE, Hay B et al. (1997) Submicroscopic deletions at 16p 13.3 in RubinsteinTaybi syndrome: frequency and clinical manifestations in a North American population. JMed Genet 34: 203–206PubMedGoogle Scholar
  100. Rodriguez JJ, Jimenez-Heffernan JA, Leal J (1994) Schinzel-Giedion syndrome: autopsy report and additional clinical manifestations. Am J Med Genet 53: 374–377PubMedGoogle Scholar
  101. Al-Gazali LJ, Farndon A, Burn J et al. (1995) Schinzel-Giedion syndrome. In: Donnai D, Winter RM (Hrsg.) Congenital Malformation Syndromes. Chapman and Hall Medical. London—Glasgow—Weinheim—New York— Tokyo—Melbourne—Madras, S. 481–492Google Scholar
  102. Wiedemann H-R, Kunze J (1995) Altas der Klinischen Syndrome für Klinik und Praxis, 4. Auflage. Schattauer-Verlag Stuttgart—New York, S. 190–191Google Scholar
  103. Shanske A, Caride DG, Menasse-Palmer L et al. (1997) Central nervous system anomlies in Seckel syndrome: report of a family and review of the literature. Am J Med Genet 70: 155–158PubMedGoogle Scholar
  104. Hughes RM, Pilia G, Xuan JY et al. (1996) Simpson-Golabi-Behmel syndrome: Genotype/phenotype analysis of 18 affaceted males from 7 unrelated families. Am J Med Genet 66: 227–234Google Scholar
  105. Clarke LA, Stringer DA, Fraser GC et al. (1993) Long term survival of an infant with sirenomelia. Am J Med Genet 45: 292–296PubMedGoogle Scholar
  106. Wiedemann H-R, Kunze J (1995) Altas der Klinischen Syndrome für Klinik und Praxis, 4. Auflage. Schattauer-Verlag Stuttgart—New York, S. 90–91Google Scholar
  107. Jones KL (1997) Smith’s recognizable Patterns of Human Malformation. 5th edition. W. B. Saunders Company Philadelphia—London—Toronto—Montreal—Sydney—Tokyo, S. 112–113Google Scholar
  108. Greenberg F, Lewis RA, Potocki L et al. (1996) Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)Google Scholar
  109. O’ Callaghan M, Young ID (1995) Townes-Brocks syndrome. In: Donnai D, Winter RM (Hrsg.) Congenital Malformation Syndromes. Chapman and Hall Medical. London—Glasgow—Weinheim—New York—Tokyo—Melbourne—Madras, S. 325–332Google Scholar
  110. Newman WG, Brunet MD, Donnai D (1997) Townes-Brocks syndrome presenting as end stage renal failure. Clin Dysmorphol 6: 57–60PubMedGoogle Scholar
  111. Jones KL (1997) Smith’s recognizable Patterns of Human Malformation. 5th edition. W. B. Saunders Company Philadelphia—London—Toronto—Montreal—Sydney—Tokyo, S. 30–33Google Scholar
  112. Arnold GL, Kirby RS, Stern TP et al. (1995) Trisomie 9: review and report of two cases. Am J Med Genet 56: 252–257PubMedGoogle Scholar
  113. Woolridge J, Zunich J (1995) Trisomy 9 syndrome: report of a case with Crohn disease and review of the literature. Am J Med Genet 56: 258–264.Google Scholar
  114. Wiedemann H-R, Kunze J (1995) Altas der Klinischen Syndrome für Klinik und Praxis, 4. Auflage. Schattauer-Verlag Stuttgart—New York, S. 96–97Google Scholar
  115. Baty BJ, Blackburn BL, Carey JC (1994) Natural history of trisomy 13: I.Growth, physical assessment, medical histories, survival, and recurrence risk. Am J Med Genet 49: 175–188.PubMedGoogle Scholar
  116. Wiedemann H-R, Kunze J (1995) Altas der Klinischen Syndrome für Klinik und Praxis, 4. Auflage. Schattauer-Verlag Stuttgart—New York, S. 98–99Google Scholar
  117. Baty BJ, Blackburn BL, Carey JC (1994) Natural history of trisomy 13: I.Growth, physical assessment, medical histories, survival, and recurrence risk. Am J Med Genet 49: 175 - 188.PubMedGoogle Scholar
  118. Wiedemann H-R, Kunze J (1995) Altas der Klinischen Syndrome für Klinik und Praxis, 4. Auflage. Schattauer-Verlag Stuttgart—New York, S. 388–389Google Scholar
  119. Wiedemann H-R, Kunze J (1995) Altas der Klinischen Syndrome für Klinik und Praxis, 4. Auflage. Schattauer-Verlag Stuttgart—New York, S. 214–215Google Scholar
  120. Ochoa B, Gorlin RJ (1987) Urofazial (Ochoa) syndrome. Am J Med Genet 27: 661–667PubMedGoogle Scholar
  121. Teebi AS, Hassoon MM (1991) Urofazial syndrome associatet with hydrozephalus due to aqueductal stenosis. Am J Med Genet 40: 199–200PubMedGoogle Scholar
  122. Wheeler PG, Weaver DD, Obeime MO et al. (1997) Urorectal septum malformation sequence: report of thirteen additional cases and review of the literature. Am J Med Genet 73: 456–462PubMedGoogle Scholar
  123. Wiedemann H-R, Kunze J (1995) Altas der Klinischen Syndrome für Klinik und Praxis, 4. Auflage. Schattauer-Verlag Stuttgart—New York, S. 640–641Google Scholar
  124. Botto LD, Khoury MJ, Mastroiacovo P et al. (1997) The spectrum of congenital anomalies of the VATER association: an international study. Am J Med Genet 71: 8–15PubMedGoogle Scholar
  125. Rittler M, Paz JE, Castilla EE (1997) VATERL: an epidemiologic analysis of risk factors. Am J Med Genet 73: 162–169PubMedGoogle Scholar
  126. Wiedemann H-R, Kunze J (1995) Altas der Klinischen Syndrome für Klinik und Praxis, 4. Auflage. Schattauer-Verlag Stuttgart—New York, S. 642–643Google Scholar
  127. Wiedemann H-R, Kunze J (1995) Altas der Klinischen Syndrome für Klinik und Praxis, 4. Auflage. Schattauer-Verlag Stuttgart—New York, S. 148–151Google Scholar
  128. Kunze J, Wiedemann H-R (1993) Das Wiedemann-Beckwith_Syndrom. In: Brandis M, Fanconi A, Frick P et al. (Hrsg.) Ergebnisse der Inneren Medizin und Kinderheilkunde 61. Springer-Verlag Berlin—Heildelberg—New York—London—Paris—Tokyo—Hongkong—Barcelona—Budapest, S. 303–338Google Scholar
  129. Jones KL (1997) Smith’s recognizable Patterns of Human Malformation. 5th edition. W. B. Saunders Company Philadelphia—London—Toronto—Montreal—Sydney—Tokyo, S. 212–213Google Scholar
  130. Wiedemann H-R, Kunze J (1995) Altas der Klinischen Syndrome für Klinik und Praxis, 4. Auflage. Schattauer-Verlag Stuttgart—New York, S. 598–599Google Scholar

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  • J. Kunze
  • J. Mücke

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