Chondrodysplasia punctata is a rare familial disorder of bone, characterized by punctate calcification in epiphyseal regions. Two major types of chondrodysplasia punctata have been delineated; a severe, recessively inherited rhizomelic from and
the
less
severe, dominantly inherited Conradi-Hunerman form.
Recently, clinico-genetic analysis of this latter form of chondrodysplasia punctata uncovered a sub-group, suggested X-linked dominant inheritance. We experienced a suspected case of X-linked dominant type of chondrodysplasia punctata in a 4
Month-old
female. She had asymmetrical shortening of lower extremity asymmetrical cataract, and ichthyosiform erythroderma, circumscribed cicatricial alopecia, asymmetrical stippled calcification.
A brief review of literatures is presented.
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