title: Familial diaphragmatic agenesis: an autosomal-recessive syndrome with a poor prognosis.
abstract: Diaphragmatic agenesis is a severe form of congenital diaphragmatic hernia for which an autosomal recessive form of inheritance has been proposed. The authors report six families with 13 pregnancies with diaphragmatic agenesis in which inheritance followed an autosomal recessive pattern, including the first reported case of bilateral diaphragmatic agenesis in twins. None of the thirteen affected fetuses survived. Familial diaphragmatic agenesis appears to be a distinct clinical entity with a worse prognosis than posterolateral diaphragmatic hernia.
authors.affiliation: Division of Pediatric Surgery, University of California, San Francisco, USA.
authors.forename: D L
authors.initials: DL
authors.lastname: Gibbs
authors.forename: H E
authors.initials: HE
authors.lastname: Rice
authors.forename: J A
authors.initials: JA
authors.lastname: Farrell
authors.forename: N S
authors.initials: NS
authors.lastname: Adzick
authors.forename: M R
authors.initials: MR
authors.lastname: Harrison
mesh_terms: D000328:Adult; D003964:Diaphragm / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive; D006548:Hernia, Diaphragmatic / Q000235:genetics*; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011379:Prognosis