Congenital diaphragmatic hernia in the Brachmann-de Lange syndrome

C. Cunniff, C. J.R. Curry, J. C. Carey, J. M. Graham, C. A. Williams, S. Stengel- Rutkowski, S. Luttgen, P. Meinecke

Research output: Contribution to journalArticlepeer-review

36 Scopus citations

Abstract

We present 12 children with typical Brachmann-de Lange syndrome and congenital diaphragmatic hernia. Affected children were more likely to be of low birth weight and to have major upper limb malformations. Hernia repair was attempted in 4 of these children, and only one survived past 12 months. Newborn infants with congenital diaphragmatic hernia should be examined carefully for evidence of the Brachmann-de Lange syndrome because diagnosis of this condition may influence their clinical management and prognosis.

Original languageEnglish (US)
Pages (from-to)1018-1021
Number of pages4
JournalAmerican journal of medical genetics
Volume47
Issue number7
DOIs
StatePublished - 1993

Keywords

  • Brachmann-de Lange syndrome
  • congenital diaphragmatic hernia
  • ectrodactyly

ASJC Scopus subject areas

  • Genetics(clinical)

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