Definition: 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.
Synonym(s): dysplasia epiphysialis punctata, hypoplastic fetal chondrodystrophy, stippled epiphysis
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