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chondrodysplasia puncta´ta a heterogeneous group of bone dysplasias, the common characteristic of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (rhizomelic dwarfism), an autosomal dominant form (Conradi-Hünermann syndrome), and a milder X-linked form.
a developmental disorder characterized by epiphysial stippling, coronal clefting of the vertebrae, dwarfism with rhizomelic shortening of the limbs, joint contractures, congenital cataracts, ichthyosis, and mental retardation. Autosomal dominant and recessive and X-linked forms exist.
chondrodysplasia punctataA clinically and genetically heterogeneous group of conditions characterised by skeletal defects and stippled epiphyses.
Chondrodysplasia punctata types
• Autosomal dominant chondrodysplasia punctate, MIM 118650.
• Conradi-Hünermann syndrome, MIM 302960.
• Rhizomelic chondrodysplasia punctate, MIM 215100, 222765.
• X-linked recessive chondrodysplasia punctate, MIM 302950.