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Cataracts as a marker of genetic heterogeneity in chondrodysplasia punctata
Author(s) -
Happle Rudolf
Publication year - 1981
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1981.tb00669.x
Subject(s) - chondrodysplasia punctata , cataracts , medicine , osteochondrodysplasia , genetic heterogeneity , genetics , biology , anatomy , phenotype , gene
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.