Intestinal lymphangiectasia, lymphedema, mental retardation, and typical face: confirmation of the Hennekam syndrome

Am J Med Genet. 1991 Aug 1;40(2):244-7. doi: 10.1002/ajmg.1320400223.

Abstract

We report on a male with intestinal lymphangiectasia, mild mental retardation, seizures, and a typical face; the syndrome was first delineated by Hennekam et al., Am. J. Med. Genet. 34:593-600 [1989]. His parents are consanguineous. This case seems to confirm the existence of the Hennekam syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Consanguinity
  • Face / abnormalities*
  • Genes, Recessive / genetics
  • Humans
  • Intellectual Disability*
  • Lymphangiectasis, Intestinal*
  • Lymphedema*
  • Magnetic Resonance Imaging
  • Male
  • Seizures
  • Syndrome