title: Sleep disturbances in 22q11.2 deletion syndrome: a case with obstructive and central sleep apnea.
abstract: The 22q11.2 deletion syndrome is characterized by wide phenotypic variability, frequently involving characteristic craniofacial features, cardiac malformations, and learning difficulties. Skeletal anomalies are also common and include an obtuse angle of the cranial base, retrognathia, and cervical spine abnormalities. Despite these anomalies, sleep-disturbed breathing is not reported frequently in patients with 22q11.2 deletion syndrome. We describe a patient with an obstructive sleep disturbance that was successfully treated with a tonsillectomy followed by mandibular distraction osteogenesis. She also had central sleep apnea, initially attributed to spinal cord impingement from cervical instability. Posterior cervical fusion was associated with a decrease in the number of central apneic events.
authors.affiliation: Department of Pediatrics, Division of Craniofacial Medicine, University of Washington and Children's Hospital and Regional Medical Center, Seattle, Washington, USA.
authors.forename: Carrie L
authors.initials: CL
authors.lastname: Heike
authors.forename: Anthony M
authors.initials: AM
authors.lastname: Avellino
authors.forename: Sohail K
authors.initials: SK
authors.lastname: Mirza
authors.forename: Yemiserach
authors.initials: Y
authors.lastname: Kifle
authors.forename: Jonathan
authors.initials: J
authors.lastname: Perkins
authors.forename: Raymond
authors.initials: R
authors.lastname: Sze
authors.forename: Mark
authors.initials: M
authors.lastname: Egbert
authors.forename: Anne V
authors.initials: AV
authors.lastname: Hing
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D002971:Cleft Lip / Q000235:genetics / Q000601:surgery; D002972:Cleft Palate / Q000235:genetics / Q000601:surgery; D019465:Craniofacial Abnormalities / Q000150:complications / Q000235:genetics / Q000628:therapy*; D005260:Female; D006801:Humans; D007223:Infant; D019186:Mandibular Advancement / Q000379:methods; D008844:Micrognathism / Q000150:complications / Q000235:genetics / Q000601:surgery; D009809:Odontoid Process / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000601:surgery*; D019857:Osteogenesis, Distraction / Q000379:methods; D017286:Polysomnography; D011859:Radiography; D020182:Sleep Apnea, Central / Q000209:etiology / Q000235:genetics / Q000628:therapy*; D020181:Sleep Apnea, Obstructive / Q000209:etiology / Q000235:genetics / Q000628:therapy*; D013117:Spinal Cord Compression / Q000150:complications / Q000000981:diagnostic imaging / Q000601:surgery*; D013577:Syndrome; D014068:Tonsillectomy; D016896:Treatment Outcome