GAPO syndrome in a child without dermal hyaline deposit

Am J Med Genet. 1994 Jul 1;51(3):191-3. doi: 10.1002/ajmg.1320510303.

Abstract

A 5-year-old girl with GAPO syndrome from India lacked PAS-positive hyaline material in the skin biopsy from thigh and scalp. The role of this pathological change, earlier reported by Wajntal et al. [1990] in the pathogenesis of GAPO syndrome, needs to be reexamined.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / etiology
  • Abnormalities, Multiple / genetics*
  • Alopecia / etiology
  • Alopecia / genetics*
  • Amyloidosis / complications
  • Anodontia / metabolism
  • Child, Preschool
  • Dwarfism / etiology
  • Dwarfism / genetics*
  • Female
  • Humans
  • Hyalin / metabolism*
  • Optic Atrophy / genetics
  • Pedigree
  • Skin / chemistry*
  • Syndrome
  • Tooth, Unerupted