Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases

J Med Genet. 1984 Aug;21(4):286-9. doi: 10.1136/jmg.21.4.286.

Abstract

Two unrelated children presenting with mental and physical retardation and sulphur deficient brittle hair are reported. These are thought to be further cases of the autosomal recessive neurotrichocutaneous syndrome of Pollitt, of which eight cases have been previously reported.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Face / abnormalities
  • Female
  • Hair / abnormalities*
  • Hair / ultrastructure
  • Humans
  • Ichthyosis / complications
  • Ichthyosis / congenital*
  • Intellectual Disability / complications
  • Male
  • Syndrome