Mesomelic limb shortness: A previously unreported autosomal recessive type

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Abstract
We report on sibs, the offspring of a consanguineous mating, whose mesomelic shortness and bowing of limbs with associated skin dimpling, retrognathia, mandibular hypoplasia, cleft palate, and camptodactyly represents a previously apparently unreported syndrome. The radiological findings are discussed, particularly with regard to the main known diagnostic possibilities.