A Case Report of Rhizomelic Chondrodysplasia Punctata in a Neonate

Abstract

Rhizomelia chondrodysplasia punctata (RCDP) is a rare autosomal recessive peroxisomal disorder which is 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 with rhizomelic chondrodysplasia had characteristic dysmorphic facies, short length, short proximal long bones, and multiple joint contractures in the extremities. Skeletal radiographs showed punctate calcifications in the humerus. The significance of RCDP lies in its impact on bone growth and skeletal abnormalities with intellectual disabilities. It has poor prognosis as mortality usually occurs in the first year of life. Our aim is to emphasize radiological and clinical features associated with RCDP for early diagnosis and management.