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New type of autosomal recessive short-limb dwarfism with absent fibulae, exceptionally short digits, and normal
G Kohn1, M Veder, A Schoenfeld
1Institute of Medical Genetics, Edith Wolfson Medical Center, Holon, Israel.
American Journal of Medical Genetics
|December 1, 1989
Abstract:
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.