Chondrodysplasia punctata represents a genetically heterogeneous group of bone dysplasias whose common feature is stippling of the epiphyses in infancy. Two major types have been recognized, i.e. the rhizomelic type with an autosomal recessive mode of inheritance (RCDP) and the Conradi-Hunermann type with autosomal dominant inheritance (Spranger et al 1971). The rhizomelic type is clinically characterized by a disproportionately short stature, primarily affecting the proximal parts of the extremities, typical facial appearance, congenital contractures, characteristic ocular involvement, severe mental and growth retardation and a number of radiological abnormalities
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