Expansion of the phenotype in Hennekam syndrome: A case with new manifestations

Brad Angle*, Joseph H. Hersh

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

18 Scopus citations

Abstract

We report on a female with lymphedema, facial anomalies, intestinal lymphangiectasia, and moderate mental retardation consistent with the diagnosis of Hennekam syndrome. In addition, she had a number of other anomalies not previously described in this autosomal recessive disorder, including a congenital heart defect, atretic ear canals, vesicoureteral reflux, and rectal prolapse.

Original languageEnglish (US)
Pages (from-to)211-214
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume71
Issue number2
DOIs
StatePublished - Aug 8 1997

Keywords

  • Heart defect
  • Hennekam syndrome
  • Intestinal lymphangiectasia
  • Lymphedema
  • Rectal prolapse

ASJC Scopus subject areas

  • Genetics(clinical)

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