title: A subcranial Le Fort III advancement with distraction osteogenesis as a clinical strategy to approach pycnodysostosis with midface retrusion and exorbitism.
abstract: Pycnodysostosis is a rare autosomal recessive skeletal disorder involving a constellation of craniofacial manifestations including midface retrusion. We report the case of a 13-year-old girl with pycnodysostosis who presented with exorbitism, midface retrusion, malocclusion, and obstructive sleep apnea. Here, we describe the successful use of subcranial Le Fort III advancement using distraction osteogenesis with internal Kawamoto distracters. After a latency of 5 days, distraction for 10 days, and consolidation for 12 weeks, her midface was advanced by 10 mm with slight overcorrection at the occlusion level. At 2 years postoperatively, the patient had complete remission of her sleep apnea, resolution of her exorbitism, and amelioration of her class III malocclusion to class I. To the best of our knowledge, this is the first report of a successful subcranial Le Fort III midface advancement with distraction osteogenesis for craniofacial reconstruction of a pycnodysostosis. Our report highlights the surgical options that have been described for this craniofacial deformity and presents a novel and expedient approach for patients with pycnodysostosis presenting with exorbitism, midface retrusion, and/or sleep apnea.
authors.affiliation: Institute of Plastic and Craniofacial Surgery, SOBRAPAR Hospital, Campinas, SP, Brazil. cassioraposo@hotmail.com
authors.forename: Cassio Eduardo
authors.initials: CE
authors.lastname: Raposo-Amaral
authors.forename: Anne
authors.initials: A
authors.lastname: Tong
authors.forename: Rafael
authors.initials: R
authors.lastname: Denadai
authors.forename: Anisa
authors.initials: A
authors.lastname: Yalom
authors.forename: Cesar Augusto
authors.initials: CA
authors.lastname: Raposo-Amaral
authors.forename: Debora
authors.initials: D
authors.lastname: Bertola
authors.forename: Andrew
authors.initials: A
authors.lastname: Li
authors.forename: Reza
authors.initials: R
authors.lastname: Jarrahy
mesh_terms: D000293:Adolescent; D003394:Craniofacial Dysostosis / Q000601:surgery*; D005094:Exophthalmos / Q000601:surgery; D005260:Female; D006801:Humans; D016268:Internal Fixators; D008313:Malocclusion, Angle Class III / Q000601:surgery; D008437:Maxilla / Q000002:abnormalities* / Q000601:surgery; D019857:Osteogenesis, Distraction / Q000295:instrumentation / Q000379:methods*; D019340:Osteotomy, Le Fort / Q000379:methods*; D058631:Pycnodysostosis / Q000601:surgery*; D019651:Plastic Surgery Procedures / Q000379:methods; D020181:Sleep Apnea, Obstructive / Q000601:surgery