Microcephaly-lymphedema syndrome: report of a family with short stature as additional manifestation

Am J Med Genet. 1998 Dec 28;80(5):506-9. doi: 10.1002/(sici)1096-8628(19981228)80:5<506::aid-ajmg13>3.0.co;2-1.

Abstract

Patients with the rare autosomal dominant microcephaly-lymphedema syndrome have apparently normal intelligence. We report on a boy with microcephaly, lymphedema, and short stature as an additional manifestation. The family history of our patient suggests autosomal dominant inheritance with reduced penetrance and variable expressivity. However, X-linked inheritance cannot be excluded.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child
  • Female
  • Growth Disorders / genetics*
  • Humans
  • Lymphedema / genetics*
  • Male
  • Microcephaly / genetics*
  • Pedigree
  • Syndrome