title: Cataracts as a marker of genetic heterogeneity in chondrodysplasia punctata.
abstract: Cataracts are suggested as a diagnostic marker to differentiate between the three types of chondrodysplasia punctata so far known. Both the rhizomelic and the X-linked dominant types are associated with cataracts in about two-thirds of the cases. In the rhizomelic type, the opacities tend to be bilateral and symmetrical. In the X-linked dominant type they are usually asymmetrical and often unilateral. In contrast, the consistent lack of cataracts is characteristic of the autosomal dominant type of chondrodysplasia punctata.
mesh_terms: D002386:Cataract / Q000150:complications* / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000145:classification / Q000150:complications / Q000235:genetics*; D014960:X Chromosome