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

نویسندگان

  • Jawad Jalil
  • Mobeen Shafique
  • Nasser Rashid Dar
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

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Klippel – Feil Syndrome Associated with Congential Heart Disease Presentaion of Cases and a Review of the Curent Literature

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Klippel 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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تاریخ انتشار 2008