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New type of autosomal recessive short-limb dwarfism with absent fibulae, exceptionally short digits, and normal intelligence

✍ Scribed by Kohn, Gertrude ;Veder, Max ;Schoenfeld, Alex ;El Shawwa, Raghda


Publisher
John Wiley and Sons
Year
1989
Tongue
English
Weight
465 KB
Volume
34
Category
Article
ISSN
0148-7299

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✦ Synopsis


Short-limb dwarfism is of heterogeneous origin and has various clinical manifestations.

This communication describes a previously apparently unreported type of short-limb dwarfism in 3 affected sibs. Characteristics of this syndrome are bilateral absence of fibulae and severe abnormalities of all digits.