AIRWAY MANIFESTATIONS OF CHONDRODYSPLASIA PUNCTATA

Chondrodysplasia punctata is a heterogeneous skeletal dysplasia charac terized by small focal calcifications in articular and other cartilage s in infancy, referred to as stippled epiphyses, with subsequent epiph ysial dysplasia and associated anomalies of the face, eyes and skin. N asal hypoplasia is commonly seen but secondary respiratory distress is infrequently described. We present two siblings with different degree s of involvement and a review of the different forms of this disorder. When an infant presents with a small nasal airway, the diagnosis of c hondrodysplasia punctata should be considered and appropriate evaluati ons obtained.