Sex-linked chondrodysplasia punctata?

Clin Genet. 1977 Jan;11(1):73-6. doi: 10.1111/j.1399-0004.1977.tb01281.x.

Abstract

Widespread atrophic lesions and pigmentary disturbances of the skin distributed in a linear or whorled pattern, are seen in some patients with chondrodysplasia punctata of the Conradi-Hünermann type. Arguments are presented in favor of the hypothesis that this association of anomalies constitutes a distinct genetic disorder, which is inherited as an X-linked dominant trait lethal in hemizygous males.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Atrophy
  • Chondrodysplasia Punctata / complications
  • Chondrodysplasia Punctata / genetics*
  • Female
  • Genetic Linkage*
  • Humans
  • Pigmentation Disorders / complications
  • Pigmentation Disorders / genetics
  • Sex Chromosomes*
  • Skin / pathology