Rhizomelic Chondrodysplasia Punctata in a Newborn:A Case Report

Abstract

Rhizomelia chondrodysplasia punctata is a type of peroxisomal disorder, characterized by punctate calcifications of the cartilage and proximal shortening of the limbs. It has a multisystem involvement which manifests as cataracts, alopecia, mental retardation, and cardiac defects. Our case presented rhizomelic chondrodysplasia had characteristic dysmorphic facies, short length, and short long bones along with various contractures of the joints in the limbs. Skeletal radiographs displayed punctate calcifications in the humerus. It has poor prognosis as mortality usually occurs during their first year. Our objective is to emphasize radiological and clinical features associated with RCDP for early diagnosis and management.