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Book

Klippel Feil Syndrome

In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan.
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Book

Klippel Feil Syndrome

Richard P. Menger et al.
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Excerpt

Klippel-Feil syndrome is a complex, congenital condition characterized by the abnormal fusion of 2 or more cervical vertebrae due to the failure of proper segmentation during early fetal development. This fusion results in a shortened neck due to the failure of proper segmentation during early fetal development, leading to congenital cervical vertebral fusion. The condition was first described by Maurice Klippel and Andre Feil in 1912. Klippel-Feil syndrome presents with the classic triad of a short neck, low posterior hairline, and limited neck mobility (see Image. Classic Triad of Klippel-Feil Syndrome).

Since its initial description, Klippel-Feil syndrome has been associated with multiple spinal and extraspinal abnormalities. These anomalies may contribute to chronic headaches, restricted neck motion, and neck muscle pain. Furthermore, Klippel-Feil syndrome can lead to spinal stenosis, neurological deficits, cervical spinal deformities, and instability. Additionally, the condition may present with various other congenital anomalies.

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Conflict of interest statement

Disclosure: Richard Menger declares no relevant financial relationships with ineligible companies.

Disclosure: Appaji Rayi declares no relevant financial relationships with ineligible companies.

Disclosure: Christina Notarianni declares no relevant financial relationships with ineligible companies.

References

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    1. Pirino A, Sotgiu MA, Cosmi E, Montella A, Bandiera P. Association of Klippel-Feil syndrome, Dandy-Walker malformation, spina bifida: A case report. Radiol Case Rep. 2019 Mar;14(3):415-418. - PMC - PubMed
    1. Dauer MVP, Currie PD, Berger J. Skeletal malformations of Meox1-deficient zebrafish resemble human Klippel-Feil syndrome. J Anat. 2018 Dec;233(6):687-695. - PMC - PubMed
    1. Roberti D, Conforti R, Giugliano T, Brogna B, Tartaglione I, Casale M, Piluso G, Perrotta S. A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity. Front Genet. 2018;9:549. - PMC - PubMed
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