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

Am J Med Genet. 1997 Aug 8;71(2):211-4.

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Craniofacial Abnormalities / genetics
  • Female
  • Genes, Recessive
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics*
  • Lymphangiectasis, Intestinal / congenital
  • Lymphangiectasis, Intestinal / genetics*
  • Lymphedema / congenital
  • Lymphedema / genetics*
  • Phenotype
  • Syndrome