Possible new autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes

Mira B. Irons*, Diana W. Bianchi, Robert L. Geggel, Gerald R. Marx, Ina Bhan

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

16 Scopus citations

Abstract

We describe two brothers with congenital lymphedema of lower limbs, atrial septal defect (ASD), and similar facial appearance. A sister had severe hydrops fetalis, ASD, omphalocele, and other anomalies. This combination of congenital lymphedema and ASD differs from other reported cases of congenital lymphedema and most likely constitutes a previously unrecognized autosomal recessive syndrome.

Original languageEnglish (US)
Pages (from-to)69-71
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume66
Issue number1
DOIs
StatePublished - Dec 2 1996
Externally publishedYes

Keywords

  • atrial septal defect
  • congenital lymphedema
  • hydrocele
  • speech delay

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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