A Case of Rhiozomelic Chondrodysplasia Punctata

OZET Rhizomelic Chondrodysplasia Punctata (RCDP) is a rare autosomal recessive syndrome characterised by punctuate calcifications of the cartilage associated with proximal limb shortening, joint contractures, vertebral coronal clefts, typical dysmorphic facies, bilateral cataracts, seizures, serious respiratory problems, failure to thrive and severe mental-motor retardation. Diagnosis is usually made based on clinical and radiological criteria. Peroxisome functions, such as the red blood cell concentration of plasmalogenes and the plasma concentrations of phytanic acid and very long chain fatty acids are biochemical indicators of RCDP. Recurrences can be avoided through genetic counselling. In this article, we present a case of the rare disorder RCDP manifested as proximal limb shortening, punctuate calcifications of the cartilage, vertebral coronal clefts, cataracts and hypotonia. The patient died in the second month of follow-up due to intercurrent lower respiratory tract infection.