Abstract
In 1912, Klippel and Feil described a patient with a short neck, a low posterior hairline, and severe restriction of motion of the neck due to complete fusion of the cervical vertebrae. These features now constitute a clinical triad of the Klippel-Feil syndrome (KFS).
Preview
Unable to display preview. Download preview PDF.
References
Bernard TN Jr, Burke SW, Johnston CE III, et al.: Congenital spine deformities. A review of 47 cases. Orthopedics 8:777–783, 1985.
Carson WG, Lovell WW, Whitesides TE: Congenital elevation of the scapula. J Bone Joint Surg Am 63:1199–1207, 1981.
Clarke RA, Davis PJ, Tonkin J: Klippel-Feil syndrome associated with malformed larynx. Case report. Ann Otol Rhinol Laryngol 103:201–207, 1994.
Clarke RA, Singh S, McKenzie H, et al.: Familial Klippel-Feil syndrome and paracentric inversion inv(8)(q22.2q23.3). Am J Hum Genet 57:1364–1370, 1995.
Clarke RA, Kearsley JH, Walsh DA: Patterned expression in familial Klippel-Feil syndrome. Teratology 53:152–157, 1996.
Cremers WRJ, Hoogland GA, Kuypers W: Hearing loss in the cervico-oculoacoustic (Wildervanck) syndrome. Arch Otolaryngol 110:54–57, 1984.
Danilidis J, Demetriadis A, Triaridis C, et al.: Otological findings in cervicooculo-auditory dysplasia. J Layngol Otol 94:533–544, 1980.
Elster A: Quadriplegia after minor trauma in the Klippel-Feil syndrome. A case report and review of the literature. J Bone Joint Surg Am 64:1473–1774, 1984.
Gunderso CH, Greenspan RH, Glaser GH, et al.: The Klippel-Feil syndrome: genetic and clinical reevaluation of cervical fusion. Medicine 46:491–512, 1967.
Hensinger RN, Lang JE, MacEwen GD: Klippel-Feil syndrome: a constellation of related anomalies. J Bone Joint Surg Am 56:1246–1253, 1974
Herman MJ, Pizzutillo PD: Cervical spine disorders in children. Orthop Clin N Am 30:457–466, 1999.
Klippel M, Feil A: Un cas d’absence des vertebras cervicales. Nov Iconogr Salpet 25:223–250, 1912
Manaligod JM, Bauman NM, Menezes AH, et al.: Cervical vertebral anomalies in patients with anomalies of the head and neck. Ann Otol Rhinol Laryngol 108:925–933, 1999.
McBride WZ: Klippel-Feil syndrome. Am Fam Physician 45:633–635, 1992.
McGaughran JM, A Oates A, D Donnai D, et al.: Mutations in PAX1 may be associated with Klippel-Feil syndrome. Eur J Hum Genet 11:468–474, 2003.
Moore WB, Matthews TJ, Rabinowitz R: Cenitourinary anomalies associated with Klippel-Feil syndrome. J Bone Joint Surg Am 57:355–357, 1975.
Pizzutillo PD, Woods M, Nicholson L, et al.: Risk factors in Klippel-Feil syndrome. Spine 19:2110–2116, 1994.
Pourquie O, Kusumi K: When body segmentation goes wring. Clin Genet 60:409–416, 2001.
Van Rijn PM, Cremers CWRJ: Surgery for congenital conductive deafness in Klippel-Feil syndrome. Ann Otol Rhinol Laryngol 97:347–352, 1988.
Visootsak J, et al.: Klinefelter syndrome reviewed. Clin Pediatr 40:639, 2001.
Winter RB, Moe JH, Lonstein JE: The incidence of Klippel-Feil syndrome in patients with congenital scoliosis and kyphosis. Spine 9:363–366, 1984.
Rights and permissions
Copyright information
© 2006 Humana Press Inc.
About this chapter
Cite this chapter
(2006). Klippel-Feil Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Humana Press. https://doi.org/10.1007/978-1-60327-161-5_111
Download citation
DOI: https://doi.org/10.1007/978-1-60327-161-5_111
Publisher Name: Humana Press
Print ISBN: 978-1-58829-681-8
Online ISBN: 978-1-60327-161-5
eBook Packages: MedicineMedicine (R0)