New type of autosomal recessive short-limb dwarfism with absent fibulae, exceptionally short digits, and normal intelligence.
AMERICAN JOURNAL OF MEDICAL GENETICS(1989)
摘要
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.
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关键词
autosomal recessive
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