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RCDP is a rare autosomal recessively inherited skeletal dysplasia characterized by rhizomelia, ichthyosis, seizures, repeated infections, congenital cataracts and joint contractures. Radiological features include epiphyseal stippling, metaphyseal abnormalities and clefts in vertebral bodies. We report a case of RDCP in a neonate because of its rarity.
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Author(s): Delhi Kumar C G Thirunavukkarasu Arun Babu Aparna J
Rhizomelic chondrodysplasia punctata (RCDP), Autosomal recessive disorder, Congenital cataract, Icthyosis.