title: 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.
authors.affiliation: Department of Pediatrics, University of Kansas Medical Center, Kansas City 66160.
authors.forename: J H
authors.initials: JH
authors.lastname: Seguin
authors.forename: R F
authors.initials: RF
authors.lastname: Baugh
authors.forename: R A
authors.initials: RA
authors.lastname: McIntee
mesh_terms: D002806:Chondrodysplasia Punctata / Q000150:complications* / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D015508:Nasal Obstruction / Q000209:etiology; D009666:Nose / Q000002:abnormalities; D009668:Nose Diseases / Q000209:etiology*; D012131:Respiratory Insufficiency / Q000209:etiology*