Congenital diaphragmatic hernia is a feature of Opitz G/BBB syndrome.
Taylor
Juliet
J
Auckland District Health Board, Auckland City Hospital, Grafton, Auckland, New Zealand.
Aftimos
Salim
S
D004947:Esophagus / Q000002:abnormalities / Q000503:physiopathology; D006548:Hernia, Diaphragmatic / Q000503:physiopathology; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D006972:Hypertelorism / Q000503:physiopathology; D007021:Hypospadias / Q000503:physiopathology; D007223:Infant; D008297:Male
Enns GM, Cox VA, Goldstein RB, Gibbs DL, Harrison MR, Golabi M 1998. Congential diaphragmatic defects and associated syndromes, malformations and chromosome anomalies: a retrospective study of 60 patients and literature review. Am J Med Genet 79:215–225.
Hodgall C, Siegel-Bartlett J, Toi A, Ritchie S 1989. Prenatal diagnosis of Opitz (BBB) syndrome in the second trimester by ultrasound detection of hypospadias and hypertelorism. Prenat Diagn 9:783–793.
Opitz JM, Gilbert EF 1982. Editorial comment: CNS anomalies and the midline as a “developmental field.” Am J Med Genet 12:443–455.
Slavotinek AM 2005. The genetics of diaphragmatic hernia. Semin Perinatol 29:77–85.