Objectives: Osteogenesis imperfecta (OI) is a genetic disorder characterized by variable degrees of dysfunction in type I collagen formation. We sought to explore an association between OI and upper airway obstruction (UAO) in light of our recent experience.
Methods: We performed a retrospective chart audit and a review of the literature.
Results: Three consecutive cases of OI at our institution required otolaryngological evaluation for UAO. The first patient had the mildest mutation type and did well until he developed severe reflux-triggered laryngospasm that improved with Nissen fundoplication and gastrostomy tube placement. He had mild hypotonia on endoscopy. The second patient had severe OI and the greatest acute fracture burden at birth. He required tracheotomy after early respiratory failure, and some mild bronchomalacia was noted. The third patient had severe OI and underwent cesarean section delivery. She developed respiratory failure after 1 month, requiring tracheotomy; mild tracheomalacia and glottic narrowing were noted on endoscopy.
Conclusions: The UAO consisted of mild hypotonia or malacia in 3 consecutive cases of OI, and may have contributed to pulmonary and mechanical causes of tracheotomy requirement. The greatest predictors of tracheotomy requirement appear to be the severity of the OI mutation and the fracture burden. Elective cesarean section should be considered in severe cases of OI.