Klippel feil in adults chat

15 Feb

In 2009, archaeologists excavating at a Neolithic site of the Đa Bút culture of northern Vietnam discovered the remains of a young man around age 25, "Burial 9", living between 2000 BC and 1500 BC with Klippel–Feil syndrome, who had apparently been supported by his subsistence-level community for at least a decade before his death.

KLIPPEL-FEIL SYNDROME Klippel-Feil Syndrome is an uncommon congenital fusion of the Cervical Vertebrae, whether it involves 2 segments, congenital block vertebrae, or the entire Cervical Spine.

Associated abnormalities may include: The disorder also may be associated with abnormalities of the head and face, skeleton, sex organs, muscles, brain and spinal cord, arms, legs, fingers and heart defects.

These heart defects often lead to a shortened life expectancy, the average being 35–45 years of age among males and 40–50 among females.

The most common sign of the disorder is restricted mobility of the neck and upper spine.

A short neck and low hairline at the back of the head may occur in some patients.

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The three categories treated for types of spinal cord deficiencies are massive fusion of the cervical spine (Type I), the fusion of 1 or 2 vertebrae (Type II), and the presence of thoracic and lumbar spine anomalies in association with type I or type II Klippel–Feil syndrome (Type III).

Mutations cause reductions in these functional proteins but, it is unclear exactly how a shortage in these proteins leads to incomplete separation of the vertebrae in people with Klippel–Feil syndrome.

Only by identifying the link between the genetic cause and the phenotypic pathoanatomy of Klippel–Feil syndrome will we be able to rationalize the heterogeneity of the syndrome.

Activities that can injure the neck should be avoided, as it may contribute to further damage.

Other diseases associated with the syndrome can be fatal if not treated, or if found too late to be treatable.