Airway manifestations of chondrodysplasia punctata

Abstract

Chondrodysplasia punctata is a heterogeneous skeletal dysplasia characterized by small focal calcifications in articular and other cartilages in infancy, referred to as stippled epiphyses, with subsequent epiphysial dysplasia and associated anomalies of the face, eyes and skin. Nasal hypoplasia is commonly seen but secondary respiratory distress is infrequently described. We present two siblings with different degrees of involvement and a review of the different forms of this disorder. When an infant presents with a small nasal airway, the diagnosis of chondrodysplasia punctata should be considered and appropriate evaluations obtained.