AN INTERESTING CASE OF KLIPPEL FEIL SYNDROME
Journal: University Journal of Medicine and Medical Specialities (Vol.4, No. 2)Publication Date: 2018-04-05
Authors : VINOTH KANNAN;
Page : 16-18
Keywords : Klippel feil syndrome; sprengels deformity; omovertebral bone; Atrial Septal Defect with Mitral Regurgitation; short neck.;
Abstract
Klippel feil syndrome is a rare disease reported in 1912 by Maurice Klippel and Andre Feil of France. Its prevalence is 1 in 42,000 individuals . 57 to 70 of patients are females. The classic clinical triad of short neck , low hair line and restricted neck motion is present only in 40 to 50 of patients. The various congenital anomalies associated are scoliosis , kyphosis , sprengels deformity , urinary system abnormalities , facial asymmetry , synkinesis or mirror movements , congenital heart diseases (more commonly VSD). We are reporting a case of Klippel Feil syndrome with its classic clinical triad along with associated anomalies like sprengels deformity , omovertebral bone and Atrial Septal Defect with Mitral Regurgitation. This congenital heart defect is only rarely reported with this syndrome.
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Last modified: 2018-04-09 15:43:08