Rhizomelic Chondrodysplasia Punctata (RCDP) in a Newborn

Female newborn baby presented with the features of rhizomelic chondrodysplasia punctata (rcdp) characterized by rhizomalic shortening with contracture of lower extremities, ichthyosis, microcephaly, dysmorphic facial features including a depressed nasal bridge, hypoplastic midface, full cheeks & low set ear, breathing difficulties and anthropometric measures below the expected indexes for her age. the patient also presented congenital heart disease, a less common manifestation of the syndrome. radiological features include epiphyseal stippling & multiple calcification in the epiphyseal cartilage,metaphyseal flaring and clefts in vertebral bodies. it is a rare autosomal recessively inherited skeletal dysplasia. the prognosis is bad and death usually occurs within the first year of age. we report a case of neonatal rcdp which was diagnosed based on the typical clinical and radiological features.