Short stature, brachydactyly, nail dysplasia, and mental retardation: further observation of the Tonoki syndrome

Am J Med Genet. 1998 Dec 4;80(4):403-5.

Abstract

We studied a patient with microcephaly, short stature, type B brachydactyly, nail dysplasia, skeletal anomalies, and mental retardation. The mother of the propositus has brachydactyly of thumbs and a similar physiognomy without mental retardation. This appears to be another observation of the Tonoki syndrome, a distinct autosomal dominant or X-linked clinical entity.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Fingers / abnormalities*
  • Growth Disorders / pathology*
  • Humans
  • Intellectual Disability / pathology*
  • Male
  • Nails, Malformed*
  • Syndrome