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A Case of Klippel-Feil Syndrome

Journal of the Korean Pediatric Society 2001;44(5):597-601.
Published online May 15, 2001.
A Case of Klippel-Feil Syndrome
Hyun Ja Kim1, Kang Ho Baek2, Hyang Do Ko3, Man Tak Oh4
1Department of Family Medicine, Kunsan Medical Center, Kunsan, Korea
2Department of Neurosurgery, Kunsan Medical Center, Kunsan, Korea
3Department of Dentistry, Kunsan Medical Center, Kunsan, Korea
4Department of Pediatrics, Kunsan Medical Center, Kunsan, Korea
Klippel-Feil Syndrome 1례
김현자1, 백강호2, 고향도3, 오만택4
1원광대학교병원 운영 군산의료원 가정의학과
2원광대학교병원 운영 군산의료원 신경외과
3원광대학교병원 운영 군산의료원 치과
4원광대학교병원 운영 군산의료원 소아과
Man Tak Oh, Email: omtak@hanmail.net
Klippel-Feil syndrome(KFS) consists of short neck, low posterior hairline and restriction of motion of the neck due to fusion of cervical vertebrae. The typical disorder results from a failure of the normal segmentation of mesodermal somites during 3-8 weeks of gestation. In 1912, the first complete clinical description of this syndrome was given by Klippel and Feil. Feil reported additional cases in 1919 and distinguished between three morphologic groups. The incidence of KFS has been estimated to be approximately 1 : 40,000-42,000 births. A slight female predilection has been noted. Although the disorder is sporadic, there are examples of familial occurrence; however, no clear mechanism of inheritance has been accepted. Since the disturbance producing a short neck occurs early in embryogenesis, defects in other organ systems may occur at the same time. Common musculoskeletal anomalies that accompany KFS include scoliosis, as well as Sprengel`s deformity in as many as one-third of cases. Neurologic, cardiovascular, and urinary tract anomalies are associated with KPS. We report a case of Klippel-Feil syndrome with associates anomalies include Sprengel's deformity.
Key Words: Klippel-Feil syndrome, Sprengel`s deformity

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