Congenital atrichia, palmoplantar hyperkeratosis, mental retardation, and early loss of teeth in four siblings: a new syndrome?

J Am Acad Dermatol. 1994 May;30(5 Pt 2):893-8. doi: 10.1016/s0190-9622(94)70108-3.

Abstract

A syndrome of congenital atrichia, palmoplantar hyperkeratosis, mental retardation, and early loss of teeth was observed in four siblings (three women and one man). The pedigree is suggestive of either an autosomal recessive mode of inheritance or the inheritance of a (small) chromosomal translocation. This combination of findings has not been previously reported and is therefore considered to be a new genetic entity.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Alopecia / congenital*
  • Alopecia / genetics*
  • Alopecia / pathology
  • Ectodermal Dysplasia / genetics
  • Female
  • Hair / abnormalities
  • Hair / pathology
  • Humans
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology
  • Keratoderma, Palmoplantar / genetics*
  • Keratoderma, Palmoplantar / pathology
  • Male
  • Middle Aged
  • Pedigree
  • Syndrome
  • Tooth Loss / genetics*
  • Tooth Loss / pathology