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Whistling face syndrome (cranio-carpo-tarsal dystrophy, Freeman-sheldon syndrome)

โœ Scribed by Andrew K. Poznanski; John F. Holt


Book ID
118974427
Publisher
Elsevier Science
Year
1973
Tongue
English
Weight
60 KB
Volume
8
Category
Article
ISSN
0037-198X

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Further evidence for genetic heterogenei
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We report on 2 brothers with severe manifestations of the whistling-face/windmill-vane-hand syndrome (also called "craniocarpotarsal dystrophy"; Freeman-Sheldon syndrome); they were born to normal, nonconsanguineous parents. Our observations support the theory of causal heterogeneity of this syndrom