In 1912, Klippel and Feil described a patient with a short neck, a low posterior hairline, and a 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) (Hensinger et al. 1974).
Synonyms and Related Disorders
Cervical vertebral fusion
Genetics/Basic Defects
- 1.
Genetic etiology unknown.
- a.
Sporadic in majority of cases
- b.
Rare autosomal dominant transmission: identification of a familial KFS gene locus on 8q [inv(8)(q22.2q23.3)] segregated with congenital vertebral fusion
- a.
- 2.
Mechanism: failure in the process of segmentation of the vertebra.
- 3.
Possible causes of phenotypic variation (Pourguie and Kusumi 2001).
- a.
Variable expression of single genes
- b.
Associated phenotypes due to deletions or large-scale rearrangements that disrupt several genes
- c.
Secondary phenotypes resulting from disruption of normal cervical vertebral patterning
...
- a.
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(2012). Klippel–Feil Syndrome. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_142
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DOI: https://doi.org/10.1007/978-1-4614-1037-9_142
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