title: Klippel-Feil syndrome associated with malformed larynx. Case report.
abstract: We report a case of a 45-year-old man with Klippel-Feil syndrome with fusion of the C2-3 and C4-5 cervical vertebrae and severe voice impairment associated with malformation of the laryngeal cartilages. The condition was also complicated by bilateral inflexibility of the arms and legs and external malformation of the ears. This case broadens the spectrum of anomalies, of branchial arch derivation, now identified in association with Klippel-Feil syndrome. We discuss the possibility that perturbation of segmentation, distinct from somitogenesis, may be linked to Klippel-Feil syndrome-associated craniofacial abnormalities.
authors.affiliation: School of Biochemistry and Molecular Genetics, University of New South Wales, Kensington, Australia.
authors.forename: R A
authors.initials: RA
authors.lastname: Clarke
authors.forename: P J
authors.initials: PJ
authors.lastname: Davis
authors.forename: J
authors.initials: J
authors.lastname: Tonkin
mesh_terms: D006801:Humans; D007714:Klippel-Feil Syndrome / Q000150:complications / Q000473:pathology* / Q000503:physiopathology; D007817:Laryngeal Cartilages / Q000002:abnormalities; D007830:Larynx / Q000002:abnormalities* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D014832:Voice Disorders / Q000209:etiology* / Q000503:physiopathology