Freeman-Sheldon syndrome and respiratory obstruction: a novel use of distraction osteogenesis.
Freeman-Sheldon syndrome, or distal arthrogryposis type IIA (DA 2A), is a rare and severe multiple congenital contracture syndrome that is associated with upper airway obstruction. This obstruction has been clinically significant enough to warrant tracheostomy and has been associated with mortality. We describe a patient who presented to us as a neonate and the novel management of her respiratory obstruction in the setting of DA 2A. Bilateral mandibular osteotomies were performed and bilateral internal mandibular distracters were placed. She was distracted a total of 3 cm over 15 days without event and successfully extubated on the postoperative day 16. Preoperative polysomnogram demonstrated an obstructive apnea hypopnea index of 43.7, but a repeat polysomnogram demonstrated an apnea hypopnea index of 8.1. In this study, we report the first use of distraction osteogenesis in the setting of severe obstructive sleep apnea syndrome secondary to DA 2A.
From the *Division of Aesthetic and Plastic Surgery, University of California, Irvine; Divisions of †Pulmonology, ‡Otolaryngology, and §Plastic Surgery, Children's Hospital Los Angeles, Los Angeles, California.
Jason D
JD
Toranto
Sally Davidson
SD
Ward
Aaron
A
Lin
Mark M
MM
Urata
D000402:Airway Obstruction / Q000601:surgery*; D003394:Craniofacial Dysostosis / Q000601:surgery*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D016268:Internal Fixators; D007442:Intubation, Intratracheal / Q000295:instrumentation / Q000379:methods; D008334:Mandible / Q000601:surgery*; D019857:Osteogenesis, Distraction / Q000295:instrumentation / Q000379:methods*; D010027:Osteotomy / Q000295:instrumentation / Q000379:methods; D017286:Polysomnography / Q000379:methods; D020181:Sleep Apnea, Obstructive / Q000601:surgery