Case report on short limb dwarfism - Rhizomelic chondrodysplasia punctata

Abstract

We are reporting a case of rhizomelic chondrodysplasia punctata, which is a rare form of peroxisomal disorder. It is an autosomal recessive disorder with distinct clinical phenotype of dwarfism due to symmetrical shortening of the proximal long bones (rhizomelia), cataracts and specific radiological abnormality like punctate epiphyseal calcification. [1] A Hindu male baby, born at term (40 weeks) by vaginal delivery, had a weak cry at birth referred to Neonatal Intensive Care Unit for fast breathing. Baby had proximal shortening of upper limbs and lower limbs. Other dysmorphic features included depressed nasal bridge, broad nose, coarse facial features, long philtrum, and macrostomia. Baby had contractures at thigh and elbow. On ophthalmological examination, there was bilateral megalocornea and near mature cataract.