title: Sex-linked chondrodysplasia punctata?
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.
mesh_terms: D000293:Adolescent; D001284:Atrophy; D002806:Chondrodysplasia Punctata / Q000150:complications / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D010859:Pigmentation Disorders / Q000150:complications / Q000235:genetics; D012730:Sex Chromosomes; D012867:Skin / Q000473:pathology