Mental retardation, hypotrichosis and syndactyly: a new entity?

Genet Couns. 1996;7(1):47-51.

Abstract

We have studied a boy with a particular clinical picture of mental retardation, hypotrichosis, early eruption of teeth, and syndactyly of hands. One sister, who died at four month of age, probably was also affected. This clinical association may represent an undescribed condition. Autosomal recessive inheritance is suggested.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Diagnosis, Differential
  • Ectodermal Dysplasia / diagnosis
  • Ectodermal Dysplasia / genetics
  • Genes, Recessive
  • Humans
  • Hypotrichosis / diagnosis
  • Hypotrichosis / genetics*
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Male
  • Phenotype
  • Syndactyly / diagnosis
  • Syndactyly / genetics*
  • Syndrome
  • Tooth Abnormalities / diagnosis
  • Tooth Abnormalities / genetics