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
Genetic etiology unknown.
Sporadic in majority of cases
Rare autosomal dominant transmission: identification of a familial KFS gene locus on 8q [inv(8)(q22.2q23.3)] segregated with congenital vertebral fusion
Mechanism: failure in the process of segmentation of the vertebra.
Possible causes of phenotypic variation (Pourguie and Kusumi 2001).
Variable expression of single genes
Associated phenotypes due to deletions or large-scale rearrangements that disrupt several genes
Secondary phenotypes resulting from disruption of normal cervical vertebral patterning
KeywordsCongenital Scoliosis Cervical Fusion Cervical Involvement Vertebral Fusion Hemifacial Microsomia
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