KLIPPEL-FEIL SYNDROME-ASSOCIATED WITH MALFORMED LARYNX - CASE-REPORT

Citation
Ra. Clarke et al., KLIPPEL-FEIL SYNDROME-ASSOCIATED WITH MALFORMED LARYNX - CASE-REPORT, The Annals of otology, rhinology & laryngology, 103(3), 1994, pp. 201-207
Citations number
39
Categorie Soggetti
Otorhinolaryngology
ISSN journal
00034894
Volume
103
Issue
3
Year of publication
1994
Pages
201 - 207
Database
ISI
SICI code
0003-4894(1994)103:3<201:KSWML->2.0.ZU;2-1
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 impair ment associated with malformation of the laryngeal cartilages. The con dition was also complicated by bilateral inflexibility of the arms and legs and external malformation of the ears. This case broadens the sp ectrum of anomalies, of branchial arch derivation, now identified in a ssociation with Klippel-Feil syndrome. We discuss the possibility that perturbation of segmentation, distinct from somitogenesis, may be lin ked to Klippel-Feil syndrome-associated craniofacial abnormalities.