Fetal cardiac anomalies and genetic syndromes

Prenatal Diagnosis

Volumn 24, Issue 13, 2004, Pages 1104-1115

  Pajkrt, Eva ^a   Weisz, Boaz ^a   Firth, Helen V ^b   Chitty, Lyn S ^a,c  

^a UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

^b ADDENBROOKE S HOSPITAL   (United Kingdom)

^c Napolitano and Prof David)   (United Kingdom)

Author keywords

Cardiac abnormalities; Fetal ultrasound; Genetic syndromes

Indexed keywords

ANEUPLOIDY; ASPLENIA; BONE DYSPLASIA; CHROMOSOME DELETION; CONGENITAL HEART MALFORMATION; DE LANGE SYNDROME; DIAGNOSTIC ACCURACY; DIAGNOSTIC IMAGING; DISEASE ASSOCIATION; ELLIS VAN CREVELD SYNDROME; FALLOT TETRALOGY; FETUS; GENETIC DISORDER; GOLDENHAR SYNDROME; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HOLT ORAM SYNDROME; HUMAN; HYDROPS; NOONAN SYNDROME; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RADIUS APLASIA; REVIEW; SMITH LEMLI OPITZ SYNDROME; VERTEBRA MALFORMATION;

CHROMOSOME ABERRATIONS; FETAL DISEASES; FETAL HEART; GENETIC DISEASES, INBORN; HEART DEFECTS, CONGENITAL; HUMANS; HYDROPS FETALIS; MASS SCREENING; MUSCULOSKELETAL ABNORMALITIES; NUCHAL TRANSLUCENCY MEASUREMENT; SYNDROME; TERATOGENS; ULTRASONOGRAPHY, PRENATAL;

EID: 11144220492     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.1067     Document Type: Review

References (128)

1. Ahlsen G, Gillberg IC, Lindblom R, Gillberg C. 1994. Tuberous sclerosis in Western Sweden. A population study of cases with early childhood onset. Arch Neurol 51: 76-81.
2. Aitken DA, Ireland M, Berry E, et al. 1999. Second-trimester pregnancy associated plasma protein-A levels are reduced in Cornelia de Lange syndrome pregnancies. Prenat Diagn 19: 706-710.
3. Allanson JE. 1987. Noonan syndrome. J Med Genet 24: 9-13.
4. Arbuzova S, Nikolenko M, Krantz D, Hallahan T, Macri J. 2003. Low first-trimester pregnancy-associated plasma protein-A and Cornelia de Lange syndrome. Prenat Diagn 23: 864.
5. Basson CT, Bachinsky DR, Lin RC, et al. 1997. Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. Nat Genet 15: 30-35.
6. Basson CT, Cowley GS, Solomon SD, et al. 1994. The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome). N Engl J Med 330: 885-891.
7. Berg C, Geipel A, Smrcek J, et al. 2003. Prenatal diagnosis of cardiosplenic syndromes: a 10-year experience. Ultrasound Obstet Gynecol 22: 451-459.
8. Bergmann C, Zerres K, Peschgens T, Senderek J, Hornchen H, Rudnik-Schoneborn S. 2003. Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC). Am J Med Genet 121A: 151-155.
9. Botto LD, May K, Fernhoff PM, et al. 2003. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 112: 101-107.
10. Boute O, Depret-Mosser S, Vinatier D, et al. 1996. Prenatal diagnosis of thrombocytopenia-absent radius syndrome. Fetal Diagn Ther 11: 224-230.
11. Brachmann E. 1916. Ein Fall von symmetrischer Monodaktylie durch Ulnadefekt. Jarb Kinder Phys Erzie 84: 224-235.
12. Braddock SR, Lachman RS, Stoppenhagen CC, et al. 1993. Radiological features in Brachmann-de Lange syndrome. Am J Med Genet 47: 1006-1013.
13. Brons JT, van Geijn HP, Wladimiroff JW, et al. 1988. Prenatal ultrasound diagnosis of the Holt-Oram syndrome. Prenat Diagn 8: 175-181.
14. Bruneau BG, Logan M, Davis N, et al. 1999. Chamber-specific cardiac expression of Tbx5 and heart defects in Holt-Oram syndrome. Dev Biol 211: 100-108.
15. Burch M, Sharland M, Shinebourne E, Smith G, Patton M, McKenna W. 1993. Cardiologic abnormalities in Noonan syndrome: phenotypic diagnosis and echocardiographic assessment of 118 patients. J Am Coll Cardiol 22: 1189-1192.
16. Carvalho JS, Mavrides E, Shinebourne EA, Campbell S, THilaganathan B. 2002. Improving the effectiveness of routine prenatal screening for major congenital heart defects. Heart 88: 387-391.
17. Chitty LS, Gardener G, Overton T. 2004. Edematous polydactyly in Smith-Lemli-Opitz syndrome type II. Ultrasound Obstet Gynecol 23: 629-630.
18. Clayton PT. 1998. Disorders of cholesterol biosynthesis. Arch Dis Child 78: 185-189.
19. Cordone M, Lituania M, Zampatti C, Passamonti U, Magnano GM, Toma P. 1989. In utero ultrasonographic features of campomelic dysplasia. Prenat Diagn 9: 745-750.
20. Cunniff C, Kratz LE, Moser A, Natowicz MR, Kelley RI. 1997. Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. Am J Med Genet 68: 263-269.
21. De Catte L, Laubach M, Legein J, Goossens A. 1996. Early prenatal diagnosis of oculoauriculovertebral dysplasia or the Goldenhar syndrome. Ultrasound Obstet Gynecol 8: 422-424.
22. de Lange C. 1934. Congenital hypertrophy of the muscles, extrapyramidal motor dysturbances and mental deficiency. Am J Dis Child 48: 243-268.
23. Den Hollander NS, van der Harten HJ, Laudy JA, van de WP, Wladimiroff JW. 1998. Early transvaginal ultrasonographic diagnosis of Beemer-Langer dysplasia: a report of two cases. Ultrasound Obstet Gynecol 11: 298-302.
24. Digilio MC, Marino B, Ammirati A, Borzaga U, Giannotti A, Dallapiccola B. 1999. Cardiac malformations in patients with oral-facial-skeletal syndromes: clinical similarities with heterotaxia. Am J Med Genet 84: 350-356.
25. DiMario FJ Jr, Diana D, Leopold H, Chameides L. 1996. Evolution of cardiac rhabdomyoma in tuberous sclerosis complex. Clin Pediatr (Phila) 35: 615-619.
26. Donnenfeld AE, Wiseman B, Lavi E, Weiner S. 1990. Prenatal diagnosis of thrombocytopenia absent radius syndrome by ultrasound and cordocentesis. Prenat Diagn 10: 29-35.
27. Driscoll DA. 2001. Prenatal diagnosis of the 22q11.2 deletion syndrome. Genet Med 3: 14-18.
28. Ellis RWB, van Creveld S. 1940. A syndrome characterised by ectodermal dysplasia, polydactyly, chondrodysplasia and congenital morbus cordis: report of three cases. Arch Dis Child 15: 65-84.
29. Fesslova V, Villa L, Rizzuti T, Mastrangelo M, Mosca F. 2004. Natural history and long-term outcome of cardiac rhabdomyomas detected prenatally. Prenat Diagn 24: 241-248.
30. Filippi G. 1989. The de Lange syndrome. Report of 15 cases. Clin Genet 35: 343-363.
31. Foster JW, Dominguez-Steglich MA, Guioli S, et al. 1994. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 372: 525-530.
32. Fryer AE, Chalmers AH, Osborne JP. 1990. The value of investigation for genetic counselling in tuberous sclerosis. J Med Genet 27: 217-223.
33. Fryns JP, van den BK, van Assche A, van den BH. 1981. Prenatal diagnosis of campomelic dwarfism. Clin Genet 19: 199-201.
34. Gatrad AR, Read AP, Watson GH. 1984. Consanguinity and complex cardiac anomalies with situs ambiguus. Arch Dis Child 59: 242-245.
35. Giknis FL. 1963. Single atrium and the Ellis-van Creveld syndrome. J Pediatr 62: 558-564.
36. Gorlin RJ, Jue KL, Jacobsen U, Goldschmidt E. 1963. Oculoauriculovertebral dysplasia. J Pediatr 63: 991-999.
37. Greenhalgh KL, Howell RT, Bottani A, et al. 2002. Thrombocytopenia-absent radius syndrome: a clinical genetic study. J Med Genet 39: 876-881.
38. Greenwood RD, Sommer A, Craenen J, Waldman JD, Rosenthal A. 1977. Congenital heart disease in de Lange's syndrome. South Med J 70: 80-81.
39. Gross H, Groh C, Weippl G. 1956. Congenital hypoplastic thrombopenia with aplasia of the radius, a syndrome of multiple variations. Neue Osterr Z Kinderheilkd 1: 574-582.
40. Hall JG. 1987. Thrombocytopenia and absent radius (TAR) syndrome. J Med Genet 24: 79-83.
41. Hall JG, Levin J, Kuhn JP, Ottenheimer EJ, van Berkum KA, Mckusick VA. 1969. Thrombocytopenia with absent radius (TAR). Medicine (Baltimore) 48: 411-439.
42. Harding CO, Pagon RA. 1990. Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma. Am J Med Genet 37: 443-446.
43. Hawley PP, Jackson LG, Kurnit DM. 1985. Sixty-four patients with Brachmann-de Lange syndrome: a survey. Am J Med Genet 20: 453-459.
44. Hedberg VA, Lipton JM. 1988. Thrombocytopenia with absent radii. A review of 100 cases. Am J Pediatr Hematol Oncol 10: 51-64.
45. Hill LM, Leary J. 1998. Transvaginal sonographic diagnosis of short-rib polydactyly dysplasia at 13 weeks' gestation. Prenat Diagn 18: 1198-1201.
46. Holt M, Oram S. 1960. Familial heart disease with skeletal malformations. Br Heart J 22: 236-242.
47. Huang WH, Porto M. 2002. Abnormal first-trimester fetal nuchal translucency and Cornelia De Lange syndrome. Obstet Gynecol 99: 956-958.
48. Hurst JA, Hall CM, Baraitser M. 1991. The Holt-Oram syndrome. J Med Genet 28: 406-410.
49. Hyett JA, Clayton PT, Moscoso G, Nicolaides KH. 1995. Increased first trimester nuchal translucency as a prenatal manifestation of Smith-Lemli-Opitz syndrome. Am J Med Genet 58: 374-376.
50. Inoue Y, Nemoto Y, Murata R, et al. 1998. CT and MR imaging of cerebral tuberous sclerosis. Brain Dev 20: 209-221.
51. Ivemark BI. 1955. Implications of agenesis of the spleen on the pathogenesis of conotruncus anomalies in childhood; an analysis of the heart malformations in the splenic agenesis syndrome, with fourteen new cases. Acta Paediatr 44: 7-110.
52. Jackson L, Kline AD, Barr MA, Koch S. 1993. de Lange syndrome: a clinical review of 310 individuals. Am J Med Genet 47: 940-946.
53. Jacobson SJ, Jones K, Johnson K, et al. 1992. Prospective multicentre study of pregnancy outcome after lithium exposure during first trimester. Lancet 339: 530-533.
54. Jick SS, Terris BZ. 1997. Anticonvulsants and congenital malformations. Pharmacotherapy 17: 561-564.
55. Jozwiak S, Kawalec W, Dluzewska J, Daszkowska J, Mirkowicz-Malek M, Michalowicz R. 1994. Cardiac tumours in tuberous sclerosis: their incidence and course. Eur J Pediatr 153: 155-157.
56. Kallen K, Robert E, Mastroiacovo P, Castilla EE, Kallen B. 1999. CHARGE Association in newborns: a registry-based study. Teratology 60: 334-343.
57. Kalter H. 2003. Teratology in the 20th century: environmental causes of congenital malformations in humans and how they were established. Neurotoxicol Teratol 25: 131-282.
58. Kandt RS, Haines JL, Smith M, et al. 1992. Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease. Nat Genet 2: 37-41.
59. Kaufman RL. 1973. Birth defects and oral contraceptives. Lancet 1: 1396.
60. Kliewer MA, Kahler SG, Hertzberg BS, Bowie JD. 1993. Fetal biometry in the Brachmann-de Lange syndrome. Am J Med Genet 47: 1035-1041.
61. Kousseff BG, Newkirk P, Root AW. 1994. Brachmann-de Lange syndrome. 1994 update. Arch Pediatr Adolesc Med 148: 749-755.
62. Kozma C. 2001. Valproic acid embryopathy: report of two siblings with further expansion of the phenotypic abnormalities and a review of the literature. Am J Med Genet 98: 168-175.
63. Krantz ID, McCallum J, DeScipio C, et al. 2004. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet 36: 631-635.
64. Kratz LE, Kelley RI. 1999. Prenatal diagnosis of the RSH/Smith-Lemli- Opitz syndrome. Am J Med Genet 82: 376-381.
65. Kwok C, Weller PA, Guioli S, et al. 1995. Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. Am J Hum Genet 57: 1028-1036.
66. Labrune P, Pons JC, Khalil M, et al. 1993. Antenatal thrombocytopenia in three patients with TAR (thrombocytopenia with absent radii) syndrome. Prenat Diagn 13: 463-466.
67. Li QY, Newbury-Ecob RA, Terrett JA, et al. 1997. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nat Genet 15: 21-29.
68. Lin AE, Ardinger HH, Ardinger RH Jr, Cunniff C, Kelley RI. 1997. Cardiovascular malformations in Smith-Lemli-Opitz syndrome. Am J Med Genet 68: 270-278.
69. Machin GA. 1989. Hydrops revisited: literature review of 1,414 cases published in the 1980s. Am J Med Genet 34: 366-390.
70. Manouvrier S, Espinasse M, Vaast P, et al. 1996. Brachmann-de Lange syndrome: pre- and postnatal findings. Am J Med Genet 62: 268-273.
71. Mansour S, Hall CM, Pembrey ME, Young ID. 1995. A clinical and genetic study of campomelic dysplasia. J Med Genet 32: 415-420.
72. Mansour S, Offiah AC, McDowall S, Sim P, Tolmie J, Hall C. 2002. The phenotype of survivors of campomelic dysplasia. J Med Genet 39: 597-602.
73. Marino B, Digilio MC, Toscano A, et al. 2001. Anatomic patterns of conotruncal defects associated with deletion 22q11. Genet Med 3: 45-48.
74. Martinez-Frias ML, Prias JL. 1999. VACTERL as primary, polytopic developmental field defects. Am J Med Genet 83: 13-16.
75. Maymon R, Ogle RF, Chitty LS. 1999. Smith-Lemli-Opitz syndrome presenting with persisting nuchal oedema and non-immune hydrops. Prenat Diagn 19: 105-107.
76. McKusick VA, Egeland JA, Eldridge R, Krusen DE. 1964. Dwarfism in the Amish I. The Ellis-van Creveld syndrome. Bull Johns Hopkins Hosp 115: 306-336.
77. Meberg A, Otterstad JE, Froland G, Lindberg H, Sorland SJ. 2000. Outcome of congenital heart defects-a population-based study. Acta Paediatr 89: 1344-1351.
78. Mehta AV, Ambalavanan SK. 1997. Occurrence of congenital heart disease in children with Brachmann-de Lange syndrome. Am J Med Genet 71: 434-435.
79. Menashe M, Arbel R, Raveh D, Achiron R, Yagel S. 2002. Poor prenatal detection rate of cardiac anomalies in Noonan syndrome. Ultrasound Obstet Gynecol 19: 51-55.
80. Mendez HM, Opitz JM. 1985. Noonan syndrome: a review. Am J Med Genet 21: 493-506.
81. Moore SJ, Turnpenny P, Quinn A, et al. 2000. A clinical study of 57 children with fetal anticonvulsant syndromes. J Med Genet 37: 489-497.
82. Newbury-Ecob RA, Leanage R, Raeburn JA, Young ID. 1996. Holt-Oram syndrome: a clinical genetic study. J Med Genet 33: 300-307.
83. Niikawa N, Kohsaka S, Mizumoto M, Hamada I, Kajii T. 1983. Familial clustering of situs inversus totalis, and asplenia and polysplenia syndromes. Am J Med Genet 16: 43-47.
84. Nir A, Ekstein S, Nadjari M, Raas-Rothschild A, Rein AJ. 2001. Rhabdomyoma in the fetus: illustration of tumor growth during the second half of gestation. Pediatr Cardiol 22: 515-518.
85. Nisbet DL, Griffin DR, Chitty LS. 1999. Prenatal features of Noonan syndrome. Prenat Diagn 19: 642-647.
86. Noonan JA, Ehmke DA. 1963. Associated noncardiac malformations in children with congenital heart disease. J Pediatr 63: 468-470.
87. Nora AH, Nora JJ. 1975. A syndrome of multiple congenital anomalies associated with teratogenic exposure. Arch Environ Health 30: 17-21.
88. Nora JJ, Nora AH, Toews WH. 1974. Letter: lithium, Ebstein's anomaly, and other congenital heart defects. Lancet 2: 594-595.
89. Opitz JM. 1985. The Noonan syndrome. Am J Med Genet 21: 515-518.
90. Pagon RA, Graham JM Jr, Zonana J, Yong SL. 1981. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr 99: 223-227.
91. Pajkrt E, Chitty LS. 2004. Prenatal gender determination and the diagnosis of genital anomalies. BJU Int 93: (Suppl. 3): 12-19.
92. Pierpont ME, Moller JH, Gorlin RJ, Edwards JE. 1982. Congenital cardiac, pulmonary, and vascular malformations in oculoauriculovertebral dysplasia. Pediatr Cardiol 2: 297-302.
93. Povey S, Burley MW, Attwood J, et al. 1994. Two loci for tuberous sclerosis: one on 9q34 and one on 16p13. Ann Hum Genet 58(Pt 2): 107-127.
94. Quan L, Smith DW. 1973. The VATER association. Vertebral defects, anal atresia, T-E fistula with esophageal atresia, radial and renal dysplasia: a spectrum of associated defects. J Pediatr 82: 104-107.
95. Rao PS, Sissman NJ. 1971. Congenital heart disease in the de Lange syndrome. J Pediatr 79: 674-677.
96. Ruiz-Perez VL, Tompson SW, Blair HJ, et al. 2003. Mutations in two nonhomologous genes in a head-to-head configuration cause Ellisvan Creveld syndrome. Am J Hum Genet 72: 728-732.
97. Russell KL, Ming JE, Patel K, Jukofsky L, Magnusson M, Krantz ID. 2001. Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences. Am J Med Genet 104: 267-276.
98. Scambler PJ. 2000. The 22q11 deletion syndromes. Hum Mol Genet 9: 2421-2426.
99. Sekimoto H, Osada H, Kimura H, Kamiyama M, Arai K, Sekiya S. 2000. Prenatal findings in Brachmann-de Lange syndrome. Arch Gynecol Obstet 263: 182-184.
100. Shackleton CH, Roitman E, Kratz LE, Kelley RI. 1999. Midgestational maternal urine steroid markers of fetal Smith-Lemli-Opitz (SLO) syndrome (7-dehydrocholesterol 7-reductase deficiency). Steroids 64: 446-452.
101. Sharland M, Burch M, McKenna WM, Paton MA. 1992. A clinical study of Noonan syndrome. Arch Dis Child 67: 178-183.
102. Shaw S, Oliver RA. 1959. Congenital hypoplastic thrombocytopenia with skeletal deformaties in siblings. Blood 14: 374-377.
103. Shelton SD, Paulyson K, Kay HH. 1999. Prenatal diagnosis of thrombocytopenia absent radius (TAR) syndrome and vaginal delivery. Prenat Diagn 19: 54-57.
104. Shepard TH, Brent RL, Friedman JM, et al. 2002. Update on new developments in the study of human teratogens. Teratology 65: 153-161.
105. Sletten LJ, Pierpont ME. 1996. Variation in severity of cardiac disease in Holt-Oram syndrome. Am J Med Genet 65: 128-132.
106. Smith AT, Sack GH Jr, Taylor GJ. 1979. Holt-Oram syndrome. J Pediatr 95: 538-543.
107. Smith HC, Watson GH, Patel RG, Super M. 1989. Cardiac rhabdomyomata in tuberous sclerosis: their course and diagnostic value. Arch Dis Child 64: 196-200.
108. Stoll C, Clementi M. 2003. Prenatal diagnosis of dysmorphic syndromes by routine fetal ultrasound examination across. Europe Ultrasound Obstet Gynecol 21: 543-551.
109. Stoll C, Garne E, Clementi M. 2001. Evaluation of prenatal diagnosis of associated congenital heart diseases by fetal ultrasonographic examination in Europe. Prenat Diagn 21: 243-252.
110. Tartaglia M, Mehler EL, Goldberg R, et al. 2001. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 29: 465-468.
111. Tellier AL, Cormier-Daire V, Abadie V, et al. 1998. CHARGE syndrome: report of 47 cases and review. Am J Med Genet 76: 402-409.
112. Temtamy SA, Miller JD. 1974. Extending the scope of the VATER association: definition of the VATER syndrome. J Pediatr 85: 345-349.
113. Tongsong T, Chanprapaph P. 2000a. Prenatal sonographic diagnosis of Holt-Oram syndrome. J Clin Ultrasound 28: 98-100.
114. Tongsong T, Sirichotiyakul S, Chanprapaph P. 2000b. Prenatal diagnosis of thrombocytopenia-absent-radius (TAR) syndrome. Ultrasound Obstet Gynecol 15: 256-258.
115. Tonkin ET, Wang TJ, Lisgo S, Bamshad MJ, Strachan T. 2004. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet 36: 636-641.
116. Urban M, Hartung J. 2001. Ultrasonographic and clinical appearance of a 22-week-old fetus with Brachmann-de Lange syndrome. Am J Med Genet 102: 73-75.
117. Van Meter TD, Weaver DD. 1996. Oculo-auriculo-vertebral spectrum and the CHARGE association: clinical evidence for a common pathogenetic mechanism. Clin Dysmorphol 5: 187-196.
118. Vissers LE, van Ravenswaaij CM, Admiraal R, et al. 2004. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 36: 955-957.
119. Wagner T, Wirth J, Meyer J, et al. 1994. Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell 79: 1111-1120.
120. Wassif CA, Maslen C, Kachilele-Linjewile S, et al. 1998. Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. Am J Hum Genet 63: 55-62.
121. Waterham HR, Wijburg FA, Hennekam RC, et al. 1998. Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. Am J Hum Genet 63: 329-338.
122. Weaver DD, Mapstone CL, Yu PL. 1986. The VATER association. Analysis of 46 patients. Am J Dis Child 140: 225-229.
123. Webb DW, Osborne JP. 1995. Tuberous sclerosis. Arch Dis Child 72: 471-474.
124. Weinblatt M, Petrikovsky B, Bialer M, Kochen J, Harper R. 1994. Prenatal evaluation and in utero platelet transfusion for thrombocytopenia absent radii syndrome. Prenat Diagn 14: 892-896.
125. Weinstein MR, Goldfield M. 1975. Cardiovascular malformations with lithium use during pregnancy. Am J Psychiatry 132: 529-531.
126. Westergaard JG, Chemnitz J, Teisner B, et al. 1983. Pregnancy-associated plasma protein A: a possible marker in the classification and prenatal diagnosis of Cornelia de Lange syndrome. Prenat Diagn 3: 225-232.
127. Winter RM, Baraitser M. 2001. The London Dysmorphology Data-base, Oxford University Press, Electronic Publishing: Oxford.
128. Winter R, Rosenkranz W, Hofmann H, Zierler H, Becker H, Borkenstein M. 1985. Prenatal diagnosis of campomelic dysplasia by ultrasonography. Prenat Diagn 5: 1-8.