Nail-patella Syndrome

An otherwise healthy 33 days old girl, displaying features of the Nail-Patella syndrome is reported. This rare autosomal dominant disorder is characterised by nail and bone abnormalities, with nail hypoplasia or dysplasia and absent or hypoplastic patella as essential features for the diagnosis. The patient had bilateral absent palpable patella with hypoplasia of the fingernails. Our patient did not have the typical iliac horns and there was no evidence of renal involvement