Autosomal recessive onychotrichodysplasia, chronic neutropenia and mild mental retardation. Delineation of the syndrome

Clin Genet. 1979 Feb;15(2):147-52. doi: 10.1111/j.1399-0004.1979.tb01753.x.

Abstract

This report describes and discusses the occurrence in two sisters of a syndrome consisting of onychotrichodysplasia, chronic neutropenia and mild mental retardation. Family studies revealed parental consanguinity and another possibly affected sister, who died in childhood. Analysis of these cases together with one previously reported case permits the delineation of a distinct syndrome probably caused by an autosomal recessive mutation.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adult
  • Agranulocytosis / genetics*
  • Child
  • Chronic Disease
  • Consanguinity
  • Female
  • Genes, Recessive
  • Hair / abnormalities*
  • Humans
  • Intellectual Disability / genetics*
  • Nails, Malformed*
  • Neutropenia / genetics*
  • Pedigree
  • Syndrome