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

A Case of Klippel-Feil Syndrome

• Kim HJ
• Baek KH
• Ko HD
• Oh MT

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; how ever, 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.

Keyword

Klippel-Feil syndrome; Sprengel's deformity

MeSH Terms

Cervical Vertebrae
Congenital Abnormalities
Embryonic Development
Female
Humans
Incidence
Klippel-Feil Syndrome*
Mesoderm
Neck
Parturition
Pregnancy
Scoliosis
Somites
Urinary Tract
Wills