Two brothers with the Marden-Walker syndrome: case report and review

J Med Genet. 1981 Feb;18(1):50-3. doi: 10.1136/jmg.18.1.50.

Abstract

Two brothers with blepharophimosis, congenital joint contractures, and mental retardation characteristic of the Marden-Walker syndrome are described. This sib pair strengthens the case for autosomal recessive inheritance of the syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Child
  • Eyelid Diseases / genetics*
  • Humans
  • Intellectual Disability / genetics*
  • Joint Diseases / genetics*
  • Male
  • Pedigree
  • Syndrome