[Regular dominance of thumb ankylosis with mental retardation transmitted over 3 generations]

J Genet Hum. 1983 Jun;31(2):107-14.
[Article in French]

Abstract

A young girl 12 old, sent to us for obesity, and coxa-epiphysiolysis showed signs of mental retardation and bilateral thumb ankylosis. The fact that the mother was also affected by both of these signs, led to a more detailed genetic research. The latter revealed that not only the daughter, the mother, but also their own mother and may be, the sister, the grand-mother and the great-aunt of the patient had a retardation, a slight dysmorphia, a type A brachydactylia, signs of obesity and an identical ankylosis of both thumbs. This vertical inheritance, affecting apparently females only, but not associated with a high rate of miscarriage, has, it seems, never been reported. The characteristics of this family are being considered and discussed.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Adult
  • Ankylosis / genetics*
  • Ankylosis / pathology
  • Child
  • Female
  • Genes, Dominant*
  • Humans
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology
  • Karyotyping
  • Pedigree
  • Thumb / abnormalities*