| Klippel-Feil syndrome associated with malformed larynx. Case report. | |
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MedLine Citation:
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PMID: 8122836 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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R A Clarke; P J Davis; J Tonkin |
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Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: The Annals of otology, rhinology, and laryngology Volume: 103 ISSN: 0003-4894 ISO Abbreviation: Ann. Otol. Rhinol. Laryngol. Publication Date: 1994 Mar |
Date Detail:
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Created Date: 1994-04-06 Completed Date: 1994-04-06 Revised Date: 2006-05-15 |
Medline Journal Info:
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Nlm Unique ID: 0407300 Medline TA: Ann Otol Rhinol Laryngol Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 201-7 Citation Subset: AIM; IM |
Affiliation:
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School of Biochemistry and Molecular Genetics, University of New South Wales, Kensington, Australia. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Humans Klippel-Feil Syndrome / complications, pathology*, physiopathology Laryngeal Cartilages / abnormalities Larynx / abnormalities*, physiopathology Male Middle Aged Voice Disorders / etiology*, physiopathology |
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