title: Apnea and sudden unexpected death in infants with achondroplasia.
abstract: Thirteen infants with achondroplasia and sudden unexpected death or unexplained apnea were discovered through nonsystematic retrospective case collection. Most were initially thought to have died from sudden infant death syndrome. However, historical and pathologic findings suggest that many of these infants had apnea and sudden unexpected death secondary to acute or chronic compression of the lower brainstem or cervical spinal cord. Infants with achondroplasia evidently are at considerably increased risk for such deaths between 1 month and 1 year of age. Appropriate intervention, given these previously unrecognized risks, may include cervical restraint, polysomnographic evaluation, and apnea monitoring.
mesh_terms: D000130:Achondroplasia / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D001049:Apnea / Q000209:etiology* / Q000473:pathology / Q000503:physiopathology; D002574:Cervical Vertebrae; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D012125:Respiratory Center / Q000503:physiopathology; D012306:Risk; D013116:Spinal Cord / Q000473:pathology; D013398:Sudden Infant Death / Q000209:etiology* / Q000473:pathology / Q000503:physiopathology