title: Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings.
abstract: OBJECTIVE
  This review addresses hearing loss as it occurs and has been reported in Muenke syndrome as well as six additional FGFR related craniosynostosis syndromes (Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, Beare-Stevenson syndrome, Crouzon syndrome with acanthosis nigricans, and Jackson-Weiss syndrome.
  
  
  METHODS
  Pub-Med, Medline, Cochrane Database, Science Direct, NLM Catalog.
  
  
  METHODS
  A Medline search was conducted to find all reported cases of the 7 FGFR related syndromic craniosynostosis. Special attention was paid to literature that reported hearing findings and the audiology literature.
  
  
  RESULTS
  Hearing loss occurs in variable percentage as a component part of all FGFR related craniosynostosis syndromes. Our literature review revealed the following incidences of hearing loss in FGFR craniosynostoses: 61% in Muenke syndrome, 80% in Apert Syndrome, 92% in Pfeiffer syndrome, 74% in Crouzon syndrome, 68% in Jackson Weiss syndrome, 4% in Beare Stevenson syndrome and 14% in Crouzon syndrome with Acanthosis Nigricans. The majority of the hearing loss is a conductive hearing loss, with the exception of Muenke syndrome where the majority of patients have a sensorineural hearing loss and Crouzon syndrome where almost half of patients have a pure or component of sensorineural hearing loss.
  
  
  CONCLUSIONS
  This manuscript presents a diagnostic and management algorithm for patients with syndromic craniosynostosis. It will aid clinicians in treating these patients and further, the recognition of a possible syndrome in patients with hearing loss who also have syndromic features.
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, NIH, MSC 3717, Building 35, Room 1B-207, Bethesda, MD 20892, USA; Clinical Research Training Program, National Institutes of Health, Bethesda, MD, USA. Electronic address: agochukwunb@mail.nih.gov.
authors.forename: Nneamaka B
authors.initials: NB
authors.lastname: Agochukwu
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, NIH, MSC 3717, Building 35, Room 1B-207, Bethesda, MD 20892, USA.
authors.forename: Benjamin D
authors.initials: BD
authors.lastname: Solomon
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, NIH, MSC 3717, Building 35, Room 1B-207, Bethesda, MD 20892, USA.
authors.forename: Maximilian
authors.initials: M
authors.lastname: Muenke
mesh_terms: D000052:Acanthosis Nigricans / Q000235:genetics; D000168:Acrocephalosyndactylia / Q000235:genetics; D003394:Craniofacial Dysostosis / Q000235:genetics*; D003398:Craniosynostoses / Q000235:genetics*; D004423:Ear / Q000002:abnormalities; D005532:Foot Deformities, Congenital / Q000235:genetics; D006314:Hearing Loss, Conductive / Q000175:diagnosis / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D012536:Scalp Dermatoses / Q000235:genetics; D012868:Skin Abnormalities / Q000235:genetics
chemical_list: D017468:Receptors, Fibroblast Growth Factor
keywords: Craniosynostosis; Hearing FGFR syndromes; Hearing loss craniosynostosis; Hearing loss syndromes; Syndromic craniosynostosis