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Chondrodysplasia punctata: Another possible X-linked recessive case

✍ Scribed by Bennett, C. P. ;Berry, A. Caroline ;Maxwell, D. J. ;Seller, Mary J.

Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
473 KB
Volume
44
Category
Article
ISSN
0148-7299

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✦ Synopsis

Abstract

A 22‐week fetus who had died in utero had a markedly hypoplastic nose and other facial abnormalities, short fingers, hypoplastic nails, and small phallus. Radiologically there was symmetrical cartilaginous stippling of the vertebral column, femoral heads, calcanei and elbows typical of chondrodysplasia punctata (CP), and metacarpal shortness and tiny pyramidal phalanges. The several causally different forms of CP are tabulated. Differential diagnosis suggests that the present case, which does not have limb shortness, could be a case of X‐linked recessive brachytelephalangic chondrodysplasia punctata. Β© 1992 Wiley‐Liss, Inc.

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