Klippel-Feil Syndrome

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1		Camila Xu	+ 856 word(s)	856	2020-12-15 07:28:56

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Xu, C. Klippel-Feil Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4393 (accessed on 28 September 2026).

Xu C. Klippel-Feil Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4393. Accessed September 28, 2026.

Xu, Camila. "Klippel-Feil Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4393 (accessed September 28, 2026).

Xu, C. (2020, December 23). Klippel-Feil Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4393

Xu, Camila. "Klippel-Feil Syndrome." Encyclopedia. Web. 23 December, 2020.

Klippel-Feil Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/klippel-feil-syndrome

Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae).

genetic conditions

References

Bayrakli F, Guclu B, Yakicier C, Balaban H, Kartal U, Erguner B, Sagiroglu MS,Yuksel S, Ozturk AR, Kazanci B, Ozum U, Kars HZ. Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype. BMC Genet. 2013 Sep 28;14:95. doi:10.1186/1471-2156-14-95.
Klimo P Jr, Rao G, Brockmeyer D. Congenital anomalies of the cervical spine.Neurosurg Clin N Am. 2007 Jul;18(3):463-78. Review.
Lampropoulou-Adamidou K, Athanassacopoulos M, Karampinas PK, Vlamis J, Korres DS, Pneumaticos SG. Congenital variations of the upper cervical spine and theirimportance in preoperative diagnosis. A case report and a review of theliterature. Eur J Orthop Surg Traumatol. 2013 Jul;23 Suppl 1:S101-5. doi:10.1007/s00590-013-1216-z.
Mohamed JY, Faqeih E, Alsiddiky A, Alshammari MJ, Ibrahim NA, Alkuraya FS.Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly.Am J Hum Genet. 2013 Jan 10;92(1):157-61. doi: 10.1016/j.ajhg.2012.11.016.
Samartzis D, Kalluri P, Herman J, Lubicky JP, Shen FH. The extent of fusionwithin the congenital Klippel-Feil segment. Spine (Phila Pa 1976). 2008 Jul1;33(15):1637-42. doi: 10.1097/BRS.0b013e31817c0bc2.
Samartzis D, Lubicky JP, Herman J, Shen FH. Faces of Spine Care: From theClinic and Imaging Suite. Klippel-Feil syndrome and associated abnormalities: thenecessity for a multidisciplinary approach in patient management. Spine J. 2007Jan-Feb;7(1):135-7.
Thomsen M, Kröber M, Schneider U, Carstens C. Congenital limb deficiencesassociated with Klippel-Feil syndrome: a survey of 57 subjects. Acta OrthopScand. 2000 Oct;71(5):461-4.
Tracy MR, Dormans JP, Kusumi K. Klippel-Feil syndrome: clinical features andcurrent understanding of etiology. Clin Orthop Relat Res. 2004 Jul;(424):183-90. Review.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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