Familial diaphragmatic agenesis: an autosomal-recessive syndrome with a poor prognosis.


Journal Article

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.

Full Text

Duke Authors

Cited Authors

  • Gibbs, DL; Rice, HE; Farrell, JA; Adzick, NS; Harrison, MR

Published Date

  • February 1997

Published In

Volume / Issue

  • 32 / 2

Start / End Page

  • 366 - 368

PubMed ID

  • 9044155

Pubmed Central ID

  • 9044155

International Standard Serial Number (ISSN)

  • 0022-3468

Digital Object Identifier (DOI)

  • 10.1016/s0022-3468(97)90212-8


  • eng

Conference Location

  • United States