Klippel and Feil in 1912, first described the disorder in a 46-year-old French man who had a short immobile neck with massive fusion of cervical and upper thoracic vertebrae,1 which came to be known as the Klippel-Feil
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چکیده
Klippel and Feil in 1912, first described the disorder in a 46-year-old French man who had a short immobile neck with massive fusion of cervical and upper thoracic vertebrae,1 which came to be known as the Klippel-Feil syndrome. Later on, other anomalies were described in association with it thus making it a multi-system congenital disorder. It is characterized by fusion of cervical vertebrae as a result of defect in their formation or segmentation. The resulting triad consists of short neck, low posterior hairline, and limited neck movement, but less than 50% of patients demonstrate all the three clinical features.2 The importance of recognizing KlippelFeil syndrome lies in the fact that there is strong association of this anomaly with other significant conditions like scoliosis and/or kyphosis (60%), Sprengel’s deformity (30%), torticollis, urinary system abnormalities (35%), loss of hearing (30%), facial asymmetry and flattening of neck (20%), synkinesis or mirror movements (20%), congenital heart diseases (4.2-14%), brain stem anomalies, congenital cervical stenosis, adrenal aplasia, ptosis, lateral rectus muscle paralysis, facial nerve paralysis, syndactily, diffuse or focal hypoplasia in upper extremities and agenesis of lungs and gallbladder may also be seen.2,3
منابع مشابه
Klippel – Feil Syndrome Associated with Congential Heart Disease Presentaion of Cases and a Review of the Curent Literature
First time described in 1912, from Maurice Klippel and Andre Feil independently, Klippel-Feil syndrome (synonyms: cervical vertebra fusion syndrome, Klippel-Feil deformity, Klippel-Feil sequence disorder) is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae), which is present from birth. Three major features result from th...
متن کاملANESTHETIC MANAGEMENT IN A CASE OF KLIPPEL-FElL SYNDROME AND LITERATURE REVIEW
Klippel-Feil syndrome is known by the classic triad of shortness of the neck , limitation of neck movements, and a low posterior hairline. There are often accompanying cervical spinal abnormalities such as kyphoscoliosis as well as urogenital and cardiac abnormalities. Presented here we have a 20 year old young man with hypoesthesia and decreased motor function in the right hand. The probl...
متن کاملThe Klippel-Feil syndrome: a case report.
Short neck and fusion of cervical vertebrae are observed in several genetic conditions and well-defined syndromes. An 8-year-old boy with a short neck, low-set posterior hairline, deafness and limited neck motion was suspected of having such a condition. Clinical and radiographic examination led to the diagnosis of Klippel-Feil syndrome.
متن کاملThe Klippel-Feil syndrome: (Congenital webbed neck).
Congenital anomalies of the vertebrae are not very uncommon, especially in the lumbar region. Those of the cervical region are much less frequently seen, especially of the type classified under the Klippel-Feil syndrome, or absence of the cervical spine. Although the deformity was probably recognized for many years before, it was not until Klippel and Feil in 1912, in the report of their case w...
متن کاملKlippel Feil syndrome
In 1912, Klippel and Feil (1) first reported on a patient with a short neck, a low posterior hairline, and severe restriction of neck movements due to complete fusion of the cervical spine, the classic clinical triad which is the hallmark of Klippel-Feil syndrome (KFS). It is estimated to occur in 1 in 40,000 to 42,000 newborns worldwide. Mutations in the GDF6 and GDF3 genes can cause KFS (2). ...
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