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Clin Genet. 1981 Jan;19(1):64-6.

Cataracts as a marker of genetic heterogeneity in chondrodysplasia punctata.


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.

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