title: The Craniofacial and Upper Limb Management of Nager Syndrome.
abstract: BACKGROUND
  Nager syndrome is a rare condition characterized by craniofacial and upper limb abnormalities. It is commonly mistaken for Treacher Collins syndrome, with which it shares the same craniofacial phenotype. However, patients with Treacher Collins do not exhibit hand anomalies, which are seen in patients with Nager syndrome. This paper reviews the multidisciplinary management of patients with Nager syndrome who were treated at the Australian Craniofacial Unit, Adelaide and the Erasmus Medical Centre, Rotterdam.
  
  
  METHODS
  The database of both units was scrutinized and the case-notes of the patients with Nager syndrome were reviewed. Data was collected on patient demographics, surgical management, complications, and outcome.
  
  
  RESULTS
  Nine patients (6 M:3 F) were identified with Nager syndrome, with a mean age at presentation of 3.7 years (range 8 days to 11.8 years). The mean follow-up time was 2.2 years (2 months to 19 years). SF3B4 mutation was noted in 2 patients and 1 patient had an X:9 translocation. Seven (77.8%) had obstructive sleep apnoea, with 5 patients diagnosed as severe obstructive sleep apnoea. Four patients had pollicization of their index, 2 patients had excision of extra radial digits and 1 patient underwent thumb duplication correction. Craniofacial surgery included mandibular advancement in 5 patients, temporo-mandibular joint reconstruction in 2 patients, and a genioplasty in 1 patient.
  
  
  CONCLUSIONS
  Nager syndrome is a rare acrofacial dysostosis syndrome that is best managed within the realms of a multidisciplinary team. The authors would advocate early pollicization in patients with thumb anomalies to prevent any impairment in manual dexterity.
authors.affiliation: *Australian Craniofacial Unit, Women's and Children's Hospital, Adelaide, SA, Australia †Team for Congenital Hand and Upper Limb Differences ‡Erasmus Medical Center Rotterdam, Rotterdam, The Netherlands.
authors.forename: Shaheel
authors.initials: S
authors.lastname: Chummun
authors.forename: Neil R
authors.initials: NR
authors.lastname: McLean
authors.forename: Peter J
authors.initials: PJ
authors.lastname: Anderson
authors.forename: Christianne van
authors.initials: Cv
authors.lastname: Nieuwenhoven
authors.forename: Irene
authors.initials: I
authors.lastname: Mathijssen
authors.forename: David J
authors.initials: DJ
authors.lastname: David
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D033183:Interdisciplinary Communication; D000070516:Intersectoral Collaboration; D008297:Male; D019186:Mandibular Advancement; D008342:Mandibulofacial Dysostosis / Q000601:surgery*; D020181:Sleep Apnea, Obstructive / Q000601:surgery; D013021:South Australia; D013704:Temporomandibular Joint / Q000601:surgery*; D055815:Young Adult