The clinical features of the Cohen syndrome: further case reports

J Med Genet. 1985 Apr;22(2):131-4. doi: 10.1136/jmg.22.2.131.

Abstract

We report the clinical features of six patients with the Cohen syndrome. The characteristic features include mental retardation, truncal obesity, prominent incisors, and tapering digits. Pelviureteric obstruction and epilepsy are reported as possible new features of this syndrome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Child
  • Child, Preschool
  • Facial Expression
  • Female
  • Fingers / abnormalities
  • Humans
  • Infant
  • Intellectual Disability / genetics
  • Male
  • Microcephaly / genetics
  • Obesity / genetics
  • Pedigree
  • Retinal Degeneration / genetics
  • Syndrome
  • Tooth Abnormalities / genetics