The genetics of common disorders - Congenital diaphragmatic hernia

European Journal of Medical Genetics

Volumn 57, Issue 8, 2014, Pages 418-423

  Slavotinek, Anne M ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

15q26 deletion syndrome; Congenital diaphragmatic hernia; Fryns syndrome

Indexed keywords

LITHIUM; TERATOGENIC AGENT;

ANEUPLOIDY; ARTICLE; AUTOSOMAL INHERITANCE; BECKWITH WIEDEMANN SYNDROME; CHROMOSOME 12P; CHROMOSOME 15Q; CHROMOSOME 1Q; CHROMOSOME 8P; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; CHROMOSOME XP; CLINICAL FEATURE; CONGENITAL DIAPHRAGM HERNIA; CRANIOFRONTONASAL SYNDROME; DENYS DRASH SYNDROME; DIAPHRAGM HERNIA; DONNAI BARROW SYNDROME; ENVIRONMENTAL FACTOR; FETAL MALNUTRITION; FRYNS SYNDROME; GENE LOCUS; GENE MUTATION; GOLTZ SYNDROME; HUMAN; KARYOTYPE; MICROPHTHALMIA; MORBIDITY; MORTALITY; NONHUMAN; NUTRITION; PAGOD SYNDROME; PALLISTER KILLIAN SYNDROME; PATHOGENESIS; SIMPSON GOLABI BEHMEL SYNDROME; WOLF HIRSCHHORN SYNDROME; ANIMAL; CHEMICALLY INDUCED; GENETICS;

ANIMALS; CHROMOSOME ABERRATIONS; HERNIAS, DIAPHRAGMATIC, CONGENITAL; HUMANS; TERATOGENS;

EID: 84907598781     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2014.04.012     Document Type: Article

References (106)

1. Ackerman K.G., Herron B.J., Vargas S.O., Huang H., Tevosian S.G., Kochilas L., et al. Fog2 is required for normal diaphragm and lung development in mice and humans. PLoS Genet 2005, 1:58-65.
2. Ackerman K.G., Vargas S.O., Wilson J.A., Jennings R.W., Kozakewich H.P., Pober B.R. Congenital diaphragmatic defects: proposal for a new classification based on observations in 234 patients. Pediatr Dev Pathol 2012, 15:265-274.
3. Babiuk R.P., Zhang W., Clugston R., Allan D.W., Greer J.J. Embryological origins and development of the rat diaphragm. JComp Neurol 2003, 455:477-487.
4. Baertschi S., Zhuang L., Trueb B. Mice with a targeted disruption of the Fgfrl1 gene die at birth due to alterations in the diaphragm. FEBS J. 2007, 274:6241-6253.
5. Basgul A., Kavak Z.N., Akman I., Basgul A., Gokaslan H., Elcioglu N. Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital diaphragmatic hernia, cystic hygroma and IUGR. Clin Exp Obstet Gynecol 2006, 33:105-106.
6. Beck T.F., Shchelochkov O.A., Yu Z., Kim B.J., Hernández-García A., Zaveri H.P., et al. Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3. PLoS ONE 2013, 8:e58830.
7. Beg M.H., Rashidi M.E., Jain V. Morgagni hernia with Down syndrome: a rare association. Indian J Chest Dis Allied Sci 2010, 52:115-117.
8. Bergoffen J., Punnett H., Campbell T.J., Ross A.J., Ruchelli E., Zackai E.H. Diaphragmatic hernia in tetrasomy 12p mosaicism. JPediatr 1993, 122:603-606.
9. Berkenstadt M., Lev D., Achiron R., Rosner M., Barkai G. Pulmonary agenesis, microphthalmia, and diaphragmatic defect (PMD): new syndrome or association. Am J Med Genet 1999, 86:6-8.
10. Beurskens L.W., Schrijver L.H., Tibboel D., Wildhagen M.F., Knapen M.F., Lindemans J., et al. Dietary vitamin A intake below the recommended daily intake during pregnancy and the risk of congenital diaphragmatic hernia in the offspring. Birth Defects Res A Clin Mol Teratol 2013, 97:60-66.
11. Bonneau D., Huret J.L., Godeau G., Couet D., Putterman M., Tanzer J., et al. Recurrent ctb(7)(q31.3) and possible laminin involvement in a neonatal cutis laxa with a Marfan phenotype. Hum Genet 1991, 87:317-319.
12. Borys D., Taxy J.B. Congenital diaphragmatic hernia and chromosomal anomalies: autopsy study. Pediatr Dev Pathol 2004, 7:35-38.
13. Brady P.D., Srisupundit K., Devriendt K., Fryns J.P., Deprest J.A., Vermeesch J.R. Recent developments in the genetic factors underlying congenital diaphragmatic hernia. Fetal Diagn Ther 2011, 29:25-39.
14. Brooks A.S., van Dooren M., Hoogeboom J., Gischler S., Willems P.J., Tibboel D. Congenital diaphragmatic hernia in a female patient with craniofrontonasal syndrome. Clin Dysmorphol 2002, 11:151-153.
15. Cano-Gauci D.F., Song H.H., Yang H., McKerlie C., Choo B., Shi W., et al. Glypican-3-deficient mice exhibit developmental overgrowth and some of the abnormalities typical of Simpson-Golabi-Behmel syndrome. J Cell Biol 2001, 146:255-264.
16. Carmi R., Meizner I., Katz M. Familial congenital diaphragmatic defect and associated midline anomalies: further evidence for an X-linked midline gene?. Am J Med Genet 1990, 36:313-315.
17. Casaccia G., Mobili L., Braguglia A., Santoro F., Bagolan P. Distal 4p microdeletion in a case of Wolf-Hirschhorn syndrome with congenital diaphragmatic hernia. Birth Defects Res A Clin Mol Teratol 2006, 76:210-213.
18. Cass D.L. Fetal surgery for congenital diaphragmatic hernia: the North American Experience. Semin Perinatol 2005, 29:104-111.
19. Catela C., Bilbao-Cortes D., Slonimsky E., Kratsios P., Rosenthal N., Te Welscher P. Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice. Dis Model Mech 2009, 2:283-294.
20. Cetinkaya M., Ozkan H., Köksal N., Yazici Z., Yalçinkaya U. Spondylocostal dysostosis associated with diaphragmatic hernia and neural tube defects. Clin Dysmorphol 2008, 17:151-154.
21. Chassaing N., Lacombe D., Carles D., Calvas P., Saura R., Bieth E. Donnai-Barrow syndrome: four additional patients. Am J Med Genet A 2003, 121:258-262.
22. Chen C.P., Shih J.C., Chern S.R., Lee C.C., Wang W. Prenatal diagnosis of mosaic trisomy 16 associated with congenital diaphragmatic hernia and elevated maternal serum alpha-fetoprotein and human chorionic gonadotrophin. Prenat Diagn 2004, 24:63-66.
23. Chung D.H., Potoka D., Warner B.W., Bucher B., Stolar C., Aspelund G., et al. Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia. Hum Genet 2013, 132:285-292.
24. Clugston R.D., Klattig J., Englert C., Clagett-Dame M., Martinovic J., Benachi A., et al. Teratogen-induced, dietary and genetic models of congenital diaphragmatic hernia share a common mechanism of pathogenesis. Am J Pathol 2006, 169:1541-1549.
25. Colvin J., Bower C., Dickinson J.E., Sokol J. Outcomes of congenital diaphragmatic hernia: a population-based study in Western Australia. Pediatrics 2005, 116:e356-e363.
26. Conlin L.K., Kaur M., Izumi K., Campbell L., Wilkens A., Clark D., et al. Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome. Am J Med Genet A 2012, 158A:3046-3053.
27. Denamur E., Bocquet N., Baudouin V., Da Silva F., Veitia R., Peuchmaur M., et al. WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis. Kidney Int 2000, 57:1868-1872.
28. Devriendt K., Deloof E., Moerman P., Legius E., Vanhole C., de Zegher F., et al. Diaphragmatic hernia in Denys-Drash syndrome. Am J Med Genet 1995, 57:97-101.
29. Donadio A., Garavelli L., Banchini G., Neri G. Kabuki syndrome and diaphragmatic defects: a frequent association in non-Asian patients?. Am J Med Genet 2000, 91:164-165.
30. Donnai D., Barrow M. Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder?. Am J Med Genet 1993, 47:679-682.
31. van Dooren M.F., Brooks A.S., Hoogeboom A.J., van den Hoonaard T.L., de Klein J.E., Wouters C.H., et al. Early diagnosis of Wolf-Hirschhorn syndrome triggered by a life-threatening event: congenital diaphragmatic hernia. Am J Med Genet A 2004, 127A:194-196.
32. Enns G.M., Cox V.A., Goldstein R.B., Gibbs D.L., Harrison M.R., Golabi M. Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: a retrospective study of 60 patients and literature review. Am J Med Genet 1998, 79:215-225.
33. Farag T.I., Bastaki L., Marafie M., al-Awadi S.A., Krsz J. Autosomal recessive congenital diaphragmatic defects in the Arabs. Am J Med Genet 1994, 50:300-301.
34. Fernandez B.A., Roberts W., Chung B., Weksberg R., Meyn S., Szatmari P., et al. Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder. JMed Genet 2010, 47:195-203.
35. Fitch N. Fryns syndrome. JMed Genet 1988, 25:135.
36. Fryns J.P., Moerman F., Goddeeris P., Bossuyt C., Van den Berghe H. Anew lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities. Hum Genet 1979, 50:65-70.
37. Gershoni-Baruch R., Machoul I., Weiss Y., Blazer S. Unknown syndrome: radial ray defects, omphalocele, diaphragmatic hernia, and hepatic cyst. JMed Genet 1990, 27:403-404.
38. Golabi M., Leung A., Lopez C. Simpson-Golabi-Behmel syndrome type 1. GeneReviews™ [Internet] 2011, University of Washington, Seattle (WA), 1993-2013. 2006 Dec 19 [updated 2011 Jun 23]. R.A. Pagon, M.P. Adam, H.H. Ardinger, T.D. Bird, C.R. Dolan, C.T. Fong, R.J.H. Smith, K. Stephens (Eds.).
39. Golzio C., Martinovic-Bouriel J., Thomas S., Mougou-Zrelli S., Grattagliano-Bessieres B., Bonniere M., et al. Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. Am J Hum Genet 2007, 80:1179-1187.
40. Greenberg F., Copeland K., Gesik M.V. Expanding the spectrum of the Perlman syndrome. Am J Med Genet 1988, 29:773-776.
41. Greer J.J. Current concepts on the pathogenesis and etiology of congenital diaphragmatic hernia. Respir Physiol Neurobiol 2013, 189:232-240.
42. Han X.Y., Wu S.S., Conway D.H., Pawel B.R., Punnett H.H., Martin R.A., et al. Truncus arteriosus and other lethal internal anomalies in Goltz syndrome. Am J Med Genet 2000, 90:45-48.
43. Hitch D.C., Carson J.A., Smith E.I., Sarale D.C., Rennert O.M. Familial congenital diaphragmatic hernia is an autosomal recessive variant. JPediatr Surg 1989, 24:860-864.
44. Holder A.M., Klaassens M., Tibboel D., de Klein A., Lee B., Scott D.A. Genetic factors in congenital diaphragmatic hernia. Am J Hum Genet 2007, 80:825-845.
45. Hosokawa S., Takahashi N., Kitajima H., Nakayama M., Kosaki K., Okamoto N. Brachmann-de Lange syndrome with congenital diaphragmatic hernia and NIPBL gene mutation. Congenit Anom (Kyoto) 2010, 50:129-132.
46. Hosseini S.H., Mousavi S.A., Rashidi H. Congenital diaphragmatic hernia following usage of lithium carbonate; is lithium a teratogen?. Iran J Pediatr 2010, 20:127-130.
47. Howe D.T., Kilby M.D., Sirry H., Barker G.M., Roberts E., Davison E.V., et al. Structural chromosome anomalies in congenital diaphragmatic hernia. Prenat Diag 1996, 16:1003-1009.
48. Izumi K., Conlin L.K., Berrodin D., Fincher C., Wilkens A., Haldeman-Englert C., et al. Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region. Am J Med Genet A 2012, 158A:3033-3045.
49. Jay P.Y., Bielinska M., Erlich J.M., Mannisto S., Pu W.T., Heikinheimo M. Impaired mesenchymal cell function in Gata4 mutant mice leads to diaphragmatic hernias and primary lung defects. Dev Biol 2007, 301:602-614.
50. Jetley N.K., Al-Assiri A.H., Al-Helal A.S., Al-Bin Ali A.M. Down's syndrome as a factor in the diagnosis, management, and outcome in patients of Morgagni hernia. JPediatr Surg 2011, 46:636-639.
51. Kantarci S., Casavant D., Prada C., Russell M., Byrne J., Haug L.W., et al. Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome. Am J Med Genet A 2006, 140:17-23.
52. Kantarci S., Al-Gazali L., Hill R.S., Donnai D., Black G.C., Bieth E., et al. Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nat Genet 2007, 39:957-959.
53. Keitges E.A., Pasion R., Burnside R.D., Mason C., Gonzalez-Ruiz A., Dunn T., et al. Prenatal diagnosis of two fetuses with deletions of 8p23.1, critical region for congenital diaphragmatic hernia and heart defects. Am J Med Genet A 2013, 161A:1755-1758.
54. Klaassens M., van Dooren M., Eussen H.J., Douben H., den Dekker A.T., Lee C., et al. Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization. Am J Hum Genet 2005, 76:877-882.
55. Klaassens M., Galjaard R.J., Scott D.A., Brüggenwirth H.T., van Opstal D., Fox M.V., et al. Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: two patients and review of the literature. Am. J Med Genet A 2007, 143A:2204-2212.
56. Kling D.E., Schnitzer J.J. Vitamin A deficiency (VAD), teratogenic, and surgical models of congenital diaphragmatic hernia (CDH). Am J Med Genet C Semin Med Genet 2007, 145C:139-157.
57. Kosaki R., Hanai S., Kakishima H., Okada M.A., Hayashi S., Ito Y., et al. Discrepancies in cytogenetic results between amniocytes and postnatally obtained blood: trisomy 9 mosaicism. Congenit Anom (Kyoto) 2006, 46:115-117.
58. Kozenko M., Grynspan D., Oluyomi-Obi T., Sitar D., Elliott A.M., Chodirker B.N. Am J Med Potential teratogenic effects of allopurinol: a case report. Am J Med Genet A 2011, 155A:2247-2252.
59. Li M., Shuman C., Fei Y.L., Cutiongco E., Bender H.A., Stevens C., et al. GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome. Am J Med Genet 2001, 102:161-168.
60. LopezJimenez N., Gerber S., Popovici V., Mirza S., Copren K., Ta L., et al. Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm. Hum Genet 2010, 127:325-336.
61. Lurie I.W. Where to look for the genes related to diaphragmatic hernia?. Genet Couns 2003, 14:75-93.
62. Macayran J.F., Doroshow R.W., Phillips J., Sinow R.M., Furst B.A., Smith L.M., et al. PAGOD syndrome: eighth case and comparison to animal models of congenital vitamin A deficiency. Am J Med Genet 2002, 108:229-234.
63. Magoulas P.L., El-Hattab A.W. Chromosome 15q24 microdeletion syndrome. Orphanet J Rare Dis 2012, 7:2.
64. Major D., Cadenas M., Fournier L., Leclerc S., Lefebvre M., Cloutier R. Retinol status of newborn infants with congenital diaphragmatic hernia. Pediatr Surg Int 1998, 13:547-549.
65. McGaughran J., Rees M., Battin M. Craniofrontonasal syndrome and diaphragmatic hernia. Am J Med Genet 2002, 110:391-392.
66. McPherson E.W., Ketterer D.M., Salsburey D.J. Pallister-Killian and Fryns syndromes: nosology. Am J Med Genet 1993, 47:241-245.
67. Mitchell S.J., Cole T., Redford D.H. Congenital diaphragmatic hernia with probable autosomal recessive inheritance in an extended consanguineous Pakistani pedigree. JMed Genet 1997, 34:601-603.
68. Mosca A.L., Pinson L., Andrieux J., Copin H., Bigi N., Puechberty J., et al. Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 from the study of four fetuses. Prenat Diagn 2011, 31:912-914.
69. Onay O.S., Kinik S.T., Otgün Y., Arda I.S., Varan B. Jarcho-Levin syndrome presenting with diaphragmatic hernia. Eur J Pediatr Surg 2008, 18:272-274.
70. Parisi M.A., Zayed H., Slavotinek A.M., Rutledge J.C. Congenital diaphragmatic hernia and microtia in a newborn with mycophenolate mofetil (MMF) exposure: phenocopy for Fryns syndrome or broad spectrum of teratogenic effects?. Am J Med Genet A 2009, 149A:1237-1240.
71. Pasutto F., Sticht H., Hammersen G., Gillessen-Kaesbach G., Fitzpatrick D.R., Nürnberg G., et al. Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet 2007, 80:550-560.
72. Patel J.S., Maher E.R., Charles A.K. Focal dermal hypoplasia (Goltz syndrome) presenting as a severe fetal malformation syndrome. Clin Dysmorphol 1997, 6:267-272.
73. Perez-Aytes A., Ledo A., Boso V., Sáenz P., Roma E., Poveda J.L., et al. In utero exposure to mycophenolate mofetil: a characteristic phenotype?. Am J Med Genet A 2008, 146A:1-7.
74. Piard J., Collet C., Arbez-Gindre F., Nirhy-Lanto A., Van Maldergem L. Coronak craniosynostosis and radial ray hypoplasia: a third report of Twist mutation in a 33 weeks fetus with diaphragmatic hernia. Eur J Med Genet 2012, 55:719-722.
75. Pilia G., Hughes-Benzie R.M., MacKenzie A., Baybayan P., Chen E.Y., Huber R., et al. Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome. Nat Genet 1996, 12:241-247.
76. Pober B.R., Russell M.K., Ackerman K.G. Congenital diaphragmatic hernia overview. GeneReviews [Internet] 2010, University of Washington, Seattle (WA), 1993-2006 Feb 1 [updated 2010 Mar 16]. R.A. Pagon, M.P. Adam, H.H. Ardinger, T.D. Bird, C.R. Dolan, C.T. Fong, R.J.H. Smith, K. Stephens (Eds.).
77. Qidwai K., Pearson D.M., Patel G.S., Pober B.R., Immken L.L., Cheung S.W., et al. Deletions of Xp provide evidence for the role of holocytochrome C-type synthase (HCCS) in congenital diaphragmatic hernia. Am J Med Genet A 2010, 152A:1588-1590.
78. Russell M.K., Longoni M., Wells J., Wells J., Maalouf F.I., Tracy A.A., Loscertales M., et al. Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes. Proc Natl Acad Sci USA 2012, 109:2978-2983.
79. Saavedra D., Richieri-Costa A., Guion-Almeida M.L., Cohen M.M. Craniofrontonasal syndrome: study of 41 patients. Am J Med Genet 1996, 61:147-151.
80. Salonen R., Herva R. Hydrolethalus syndrome. JMed Genet 1990, 27:756-759.
81. Seller M.J., Davis T.B., Fear C.N., Flinter F.A., Ellis I., Gibson A.G. Two sibs with anophthalmia and pulmonary hypoplasia (the Matthew-Wood syndrome). Am J Med Genet 1996, 62:227-229.
82. Sergi C., Schulze B.R., Hager H.D., Beedgen B., Zilow E., Linderkamp O., et al. Wolf-Hirschhorn syndrome: case report and review of the chromosomal aberrations associated with diaphragmatic defects. Pathologica 1998, 90:285-293.
83. Shimokawa O., Miyake N., Yoshimura T., Sosonkina N., Harada N., Mizuguchi T., et al. Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia. Am J Med Genet A 2005, 136:49-51.
84. Skari H., Bjornland K., Haugen G., Egeland T., Emblem R. Congenital diaphragmatic hernia: a meta-analysis of mortality factors. JPediatr Surg 2000, 35:1187-1197.
85. Skarsgard E.D., Harrison M.R. Congenital diaphragmatic hernia: the surgeon's perspective. Neoreviews 1999, e71-e78.
86. Slavotinek A.M. Fryns syndrome - a review of the phenotype and diagnostic guidelines. Am J Med Genet 2004, 124A:427-433.
87. Slavotinek A.M. The genetics of congenital diaphragmatic hernia. Semin Perinatol 2005, 29:77-85.
88. Slavotinek A., Lee S.S., Davis R., Shrit A., Leppig K.A., Rhim J., et al. Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1. JMed Genet 2005, 42:730-736.
89. Slavotinek A.M., Moshrefi A., Davis R., Leeth E., Schaeffer G.B., Burchard G.E., et al. Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2. Eur J Hum Genet 2006, 14:999-1008.
90. Slavotinek A.M. Single gene disorders associated with congenital diaphragmatic hernia. Am J Med Genet C Semin Med Genet 2007, 145C:172-183.
91. Slavotinek A.M., Moshrefi A., Lopez Jiminez N., Chao R., Mendell A., Shaw G.M., et al. Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic hernia. Clin Genet 2009, 75:429-439.
92. Storm T., Tranebjærg L., Frykholm C., Birn H., Verroust P.J., Nevéus T., et al. Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration. Nephrol Dial Transpl 2013, 28:585-591.
93. Sunitha V.C., Narayanan S., Nair P.P., Prakash M.L. Left-sided Poland's syndrome in a girl with rare associations like spina bifida and diaphragmatic hernia. BMJ Case Rep 2013, 2013.
94. Takahashi H., Hayashi S., Miura Y., Tsukamoto K., Kosaki R., Itoh Y., et al. Trisomy 9 mosaicism diagnosed in utero. Obstet Gynecol Int 2010, 2010.
95. Torfs C.P., Curry C.J., Bateson T.F., Honoré L.H., Russell M.K., Longoni M., et al. Apopulation-based study of congenital diaphragmatic hernia. Teratology 1992, 46:555-565.
96. Wallerstein R., Wallerstein D.F., Trauffer P., Desposito F. Congenital diaphragmatic hernia and ipsilateral limb reduction defect: a new case, long-term follow-up and review of the literature. Clin Dysmorphol 1997, 6:257-261.
97. Wang X., Reid Sutton V., Omar Peraza-Llanes J., Yu Z., Rosetta R., Kou Y.C., et al. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet 2007, 39:836-838.
98. Wat M.J., Shchelochkov O.A., Holder A.M., Breman A.M., Dagli A., Bacino C., et al. Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia. Am J Med Genet A 2009, 149A:1661-1677.
99. Wat M.J., Veenma D., Hogue J., Holder A.M., Yu Z., Wat J.J., et al. Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia. JMed Genet 2011, 48:299-307.
100. Wat M.J., Beck T.F., Hernández-García A., Yu Z., Veenma D., Garcia M., et al. Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1. Hum Mol Genet 2012, 21:4115-4125.
101. West S.D., Wilson J.M. Follow up of infants with congenital diaphragmatic hernia. Semin Perinatol 2005, 29:129-133.
102. Wilkens A., Liu H., Park K., Campbell L.B., Jackson M., Kostanecka A., et al. Novel clinical manifestations in Pallister-Killian syndrome: comprehensive evaluation of 59 affected individuals and review of previously reported cases. Am J Med Genet A 2012, 158A:3002-3017.
103. Wilmink F.A., Papatsonis D.N., Grijseels E.W., Wessels M.W. Cornelia de lange syndrome: a recognizable fetal phenotype. Fetal Diagn Ther 2009, 26:50-53.
104. Witters L., Moerman P., Brouwers A., Fryns J.P. Diaphragmatic hernia with extralobar lung sequestration in the Beckwith-Wiedemann syndrome. Genet Couns 2004, 15:371-374.
105. You L.R., Takamoto N., Yu C.T., Tanaka T., Kodama T., Demayo F.J., et al. Mouse lacking COUP-TFII as an animal model of Bochdalek-type congenital diaphragmatic hernia. Proc Natl Acad Sci USA 2005, 102:16351-16356.
106. Yu L., Wynn J., Ma L., Guha S., Mychaliska G.B., Crombleholme T.M., et al. De novo copy number variants are associated with congenital diaphragmatic hernia. JMed Genet 2012, 49:650-659.