- Current Pediatric Research (2012) Volume 16, Issue 2
Rhizomelic chondrodysplasia punctata (RCDP): A case report.
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.Author(s): Delhi Kumar C G, Thirunavukkarasu Arun Babu, Aparna J