All issues > Volume 44(5); 2001

Case Report

J Korean Pediatr Soc. 2001;44(5):597-601. Published online May 15, 2001.

A Case of Klippel-Feil Syndrome

Hyun Ja HJ Kim¹, Kang Ho KH Baek², Hyang Do HD Ko³, Man Tak MT 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

Correspondence Man Tak MT Oh ,Email: omtak@hanmail.net

Abstract

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.

Keywords :Klippel-Feil syndrome, Sprengel`s deformity