A Case of Rhizomelic Chondrodysplasia Panctata with Congenital Heart Disease

Abstract

BACKGROUND & OBJECTIVE: Chondrodysplasia punctata (CPD) describes a diverse group of bony dysplasias, all of which share in common punctate calcification of cartilage. Symptoms include shortening of limbs, cataracts, dry and scaly skin and congenital heart diseases. In autosomal recessive form, renal and cardiac anomalies are rare. In this report, a rare case of rhizomelic chondrodysplasia punctata (RCDP) with congenital heart disease (TOF) and renal anomalies was presented.CASE: Patient is a 16-day old male infant admitted to NICU with respiratory distress and cyanosis. He was with congenital heart disease, nose bridge hypoplasia, renal anomaly, anus malposition with no cataract. The diagnosis of chondrodysplasia punctata was based on symptoms. The infant underwent mechanical ventilation and renal failure treatment but died due to neonatal sepsis.CONCLUSION: According to reported cases, in patients with RCDP evaluations for congenital heart and renal anomalies should be considered.

Keywords

• chondrodysplasia punctata
• cardiac anomaly
• renal anomaly
• anus malposition
• autosomal recessive