Coffin-Lowry syndrome and schizophrenia: a family report

J Ment Defic Res. 1987 Jun:31 ( Pt 2):199-207. doi: 10.1111/j.1365-2788.1987.tb01356.x.

Abstract

A family is reported in which the mother and 4 of her 6 children are affected by a constellation of abnormalities including mental handicap, abnormal facies, short stature, soft fleshy hands with tapering fingers and skeletal abnormalities. The family is believed to represent a further group of individuals with Coffin-Lowry syndrome. Additionally, one affected daughter has symptoms suggestive of schizophrenia and one affected son has severe sensorineural deafness.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Adult
  • Child, Preschool
  • Deafness / genetics
  • Face / abnormalities
  • Female
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Middle Aged
  • Pedigree
  • Schizophrenia / genetics*
  • Syndrome