title: Airway malacia in children with achondroplasia.
abstract: This study was undertaken to assess the frequency of airway malacia in infants and young children with achondroplasia, a population well known to be at risk for a variety of respiratory problems. We also wished to evaluate what, if any, contribution airway malacia makes to the complex respiratory issues that may be present in those with achondroplasia. Retrospective chart review of all infants and young children with achondroplasia who were assessed through the Midwest Regional Bone Dysplasia Clinics from 1985 through 2012 (n = 236) was completed. Records of comprehensive clinical examinations, polysomnographic assessments, and airway visualization were reviewed and abstracted using a data collection form. Analyses were completed comparing the group with and those without evidence for airway malacia. Thirteen of 236 patients (5.5%) were found to have airway malacia. Most of those affected had lower airway involvement (9/13). The presence of airway malacia was correlated with an increased occurrence of obstructive sleep apnea as well as need for oxygen supplementation, airway surgeries and tracheostomy placement. Although estimates of the frequency of airway malacia in the general population are limited, its frequency in children with achondroplasia appears to be much higher than any published general population estimate. The presence of airway malacia appears to confound other breathing abnormalities in this population and results in the need for more invasive airway treatments.
authors: Department of Pediatrics, University of Wisconsin-Madison, Madison, Wisconsin.
authors: Kimberly E
authors: KE
authors: Dessoffy
authors: Peggy
authors: P
authors: Modaff
authors: Richard M
authors: RM
authors: Pauli
mesh_terms: D000130:Achondroplasia / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D009017:Morbidity; D012189:Retrospective Studies; D020181:Sleep Apnea, Obstructive / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology*
keywords: achondroplasia; airway obstruction; bone dysplasias; bronchomalacia; laryngomalacia; malacia; natural history; respiratory problems; tracheomalacia