Severe lymphedema, intestinal lymphangiectasia, seizures and mild mental retardation: further case of Hennekam syndrome with a severe phenotype

Am J Med Genet. 2002 Jul 22;111(1):68-70. doi: 10.1002/ajmg.10509.

Abstract

We report on an Italian patient affected by severe lymphedema of lower limbs, genitalia and face, intestinal lymphangiectasia, seizures, and moderate mental retardation. He has a flat face, flat nasal bridge, and hypertelorism. We propose that he presents with a severe form of Hennekam syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Adolescent
  • Epilepsy / etiology
  • Face / abnormalities
  • Humans
  • Intellectual Disability* / etiology
  • Lymphangiectasis, Intestinal / congenital*
  • Lymphatic System / abnormalities
  • Lymphedema / congenital*
  • Lymphedema / genetics
  • Lymphedema / surgery
  • Male
  • Recurrence
  • Syndrome