Syndromic associations with congenital anomalies of the fetal thorax and abdomen

Prenatal Diagnosis

Volumn 28, Issue 7, 2008, Pages 676-684

  Hurst, Jane ^a   Firth, Helen V ^b   Chitty, Lyn S ^c  

^a OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^b ADDENBROOKE S HOSPITAL   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Anterior abdominal wall defects; Bowel obstruction; Chromosomal anomalies; Diaphragmatic hernia; Genetic syndromes; Prenatal diagnosis

Indexed keywords

ABDOMINAL DISEASE; ABDOMINAL WALL DEFECT; ANUS ATRESIA; BECKWITH WIEDEMANN SYNDROME; BLADDER EXSTROPHY; DE LANGE SYNDROME; DIAPHRAGM HERNIA; DUODENUM ATRESIA; EPISPADIAS; ESOPHAGUS ATRESIA; FRASER SYNDROME; FRYNS SYNDROME; GASTROSCHISIS; GOLTZ SYNDROME; INTESTINE ATRESIA; INTESTINE OBSTRUCTION; LUNG LESION; NEPHROBLASTOMA; OMPHALOCELE; PALLISTER KILLIAN SYNDROME; PRIORITY JOURNAL; REVIEW; SIMPSON GOLABI BEHMEL SYNDROME; SPINE MALFORMATION; THORAX DISEASE; UMBILICAL HERNIA;

ABDOMEN; CHROMOSOME ABERRATIONS; FEMALE; GENETIC COUNSELING; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT, NEWBORN; PREGNANCY; PRENATAL DIAGNOSIS; SYNDROME; THORAX;

EID: 48649083124     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2023     Document Type: Review

References (28)

1. Betremieux P, Lionnais S, Beuchée A, et al. 2002. Perinatal management and outcome of prenatally diagnosed congenital diaphragmatic hernia: a 1995-2000 series in Rennes University Hospital. Prenat Diagn 22: 988-994.
2. Di Tanna GL, Rosan A, Mastroiacovo P. 2002. Prevalence of gastroschisis at birth: retrospective study. BMJ 325: 1389-1390.
3. Doray B, Girard-Lemaire F, Gasser B, et al. 2002. Pallister-Killian syndrome: difficulties of prenatal diagnosis. Prenat Diagn 22(6): 470-477.
4. Elliott M, Maher ER. 1994. Syndrome of the month. Beckwith-Wiedemann syndrome. J Med Genet 31: 560-564.
5. Enns GM, Cox VA, Goldstein RB, et al. 1998. Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: a retrospective study of 60 patients and literature review. Am J Med Genetw 79(3): 215-225.
6. Feingold M, Hall BD, Lacassie Y, Martinez-Frias ML. 1997. Syndrome of Microcephaly, facial and hand abnormalities, tracheosophageal fistula, duodenal atresia, and developmental delay. Am J Med Genet 69: 245-249.
7. Grzeschik K-H, Bornholdt D, Oeffner F, et al. 2007. Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. Nat Genet 39: 833-835.
8. Huddy CL, Boyd PA, Wilkinson AR, Chamberlain P. 1999. Congenital diaphragmatic hernia: prenatal diagnosis, outcome and continuing morbidity in survivors. Br J Obstet Gynaecol 106(11): 1192-1196.
9. Hyett JA, Gardiner G, Stojilkovic-Mikic T, et al. 2005. Reduction in diagnostic and therapeutic interventions by non-invasive determination of fetal sex in early pregnancy. Prenat Diagn 25(12): 1111-1116.
10. Kantarci S, Al-Gazali L, Hill RS, et al. 2007. Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nat Genet 39: 957-959.
11. 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.
12. Kumaran N, Shankar KR, Lloyd DA, Losty PD. 2002. Trends in the management and outcome of jejuno-ileal atresia. Eur J Pediatr Surg 12(3): 163-167.
13. Lépinard C, Descamps P, Meneguzzi G, et al. 2000. Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk. Prenat Diagn 20: 70-75.
14. Maher ER, Brueton LA, Bowdin SC, et al. 2003. Beckwith-Wiedemann syndrome and assisted reproduction technology (ART). J Med Genet 40: 62-64.
15. Marino T, Wheeler PG, Simpson LL, et al. 2002. Fetal diaphragmatic hernia and upper limb anomalies suggest Brachmann-de Lange syndrome. Prenat Diagn 22(2): 144-147.
16. Mastroiacovo P, Lisi A, Castilla EE, et al. 2007. Gastroschisis and associated defects: an international study. Am J Med Genet 143: 660-671.
17. Nazzaro V, Nicolini U, De Luca L, Berti E, Caputo R. 1990. Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia. J Med Genet 27: 244-248.
18. Reid CO, Hall JG, Anderson C, et al. 1986. Association of amyoplasia with gastroschisis, bowel atresia and defects of the muscular layer of the trunk. Am J Med Genet 24: 701-710.
19. Robertson SP, Twigg SRF, Sutherland-Smith AJ, et al, OPD-spectrum Disorders Clinical Collaborative Group. 2003. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet 33: 487-491.
20. Shaw-Smith C. 2006. Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology. J Med Genet 43: 545-554.
21. Slavotinek A. 2004. Fryns syndrome: a review of the phenotype and diagnostic guidelines. Am J Med Genet 124A: 427-433.
22. Slavotinek AM. 2007. Single gene disorders associated with congenital diaphragmatic hernia. Am J Med Genet C Semin Med Genet 145: 172-183.
23. Slavotinek AM, Tifft CJ. 2002. Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes. J Med Genet 39: 623-633.
24. Stevens CA, McClanahan C, Steck A, Shiel FOM, Carey JC. 1994. Pulmonary hyperplasia in the Fraser cryptophthalmos syndrome. Am J Med Genet 52: 427-431.
25. Wang X, Sutton VR, Peraza-Llanes JO, et al. 2007. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet 39: 836-838.
26. Wenstrom KD, Weiner CP, Hanson JW. 1991. A five-year statewide experience with congenital diaphragmatic hernia. Am J Obstet Gynecol 165(4 Pt 1): 838-842.
27. Wenstrom KD. 2003. Fetal surgery for congenital diaphragmatic hernia. N Engl J Med 349(20): 1887-1888.
28. West Midlands Congenital Anomaly Register. 2003. Congenital Diaphragmatic Hernia 1995-2000. West Midlands Perinatal Institute; Birmingham, UK; ISBN 0 9523457 9 X.