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
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.