Title: Rhizomelic Chondrodysplasia Punctata- A Case Report
Authors: Dr Sunil Kumar Agarwalla, Dr Priyadarshani Paik
DOI: https://dx.doi.org/10.18535/jmscr/v9i6.40
Abstract
Peroxisomal diseases are a group of monogenic disorders that include defects in peroxisome biogenesis or enzyme deficiencies[1]. Rhizomelic chondrodysplasia punctata (RCDP) belongs to peroxisome biogenesis disorder caused by autosomal recessive mutation on PEX7 gene, encoding PTS2 receptor[2]. It is characterized by rhizomelia, ichthyosis, seizure, repeated infection, congenital cataract & joint contractures[1]. Radiological features include epiphyseal stippling, coronal clefts in vertebral bodies. Here we are reporting a case of RCDP in an infant because of its rarity.
Keywords: Peroxisome, Rhizomelia, Autosomal recessive, cataract, contracture.
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