New type of autosomal recessive short-limb dwarfism with absent fibulae, exceptionally short digits, and normal intelligence.Am J Med Genet. 1989 Dec; 34(4):535-40.AJ
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.