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Journal of the Korean Academy of Rehabilitation Medicine 1994;18(3):31.
X-linked Dominant Chondrodysplasia -A case report-
Kwang Soo Kim, M.D. , In Young Seong, M.D.
Department of Rehabilitation Medicine, Ulsan University College of Medicine
Chondrodysplasia Punctata (X-linked dominant type)
김광수, 성인영
울산대학교 의과대학 재활의학교실

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.

Key Words: Chondrodysplasia punctata, X-linked dominant inheritance


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