A Case of Klippel-Feil Syndrome.
- Author:
Hyun Ja KIM
1
;
Kang Ho BAEK
;
Hyang Do KO
;
Man Tak OH
Author Information
1. Department of Family Medicine, Kunsan Medical Center, Kunsan, Korea.
- Publication Type:Case Report
- Keywords:
Klippel-Feil syndrome;
Sprengel's deformity
- MeSH:
Cervical Vertebrae;
Congenital Abnormalities;
Embryonic Development;
Female;
Humans;
Incidence;
Klippel-Feil Syndrome*;
Mesoderm;
Neck;
Parturition;
Pregnancy;
Scoliosis;
Somites;
Urinary Tract;
Wills
- From:Journal of the Korean Pediatric Society
2001;44(5):597-601
- CountryRepublic of Korea
- Language:Korean
-
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.
