A second case of severe mental retardation and absent nails of hallux and pollex (Temple-Baraitser syndrome)

Am J Med Genet A. 2008 Feb 15;146A(4):450-2. doi: 10.1002/ajmg.a.32129.

Abstract

We present a case of a male with severe mental retardation, seizure disorder, and absence/hypoplasia of the thumb and great toe nails. This combination of clinical findings has been reported only once previously. We suggest it represents a distinct syndrome. Our case has the additional finding of broad thumbs.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Child, Preschool
  • Hallux / abnormalities*
  • Humans
  • Intellectual Disability / complications*
  • Intellectual Disability / diagnosis*
  • Male
  • Nails, Malformed / congenital*
  • Syndrome
  • Thumb / abnormalities*