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

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35 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 - Nov 9 1993

Keywords

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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Cunniff, C., Curry, C. J. R., Carey, J. C., Graham, J. M., Williams, C. A., Stengel- Rutkowski, S., Luttgen, S., & Meinecke, P. (1993). Congenital diaphragmatic hernia in the Brachmann-de Lange syndrome. American journal of medical genetics, 47(7), 1018-1021. https://doi.org/10.1002/ajmg.1320470716