Klippel Feil Syndrome and Associated Anomalies

Introduction: Klippel-Feil syndrome (KFS) is a rare genetic disorder characterized by abnormal the development of the cervical spine, which leads to the fusion of two or more cervical vertebrae. Incidence is 1:40 000 - 42 000. Inheritance is usually autosomal dominant. The gene mutation is most often found on the long arm of chromosome 8q22.1.The syndrome was first described by French physicians, Maurice Klippel and André Feil in 1912 with the classic clinical triad of manifestations consisting of a low posterior hairline, short neck, and limited neck range of motion. There may be skin folds on the neck - Pterygium colli, and the shoulder blades are high - Sprengel Deformity. Scoliosis is often present. Accompanying, hidden anomalies may be more important than neck deformity. A clinical finding with an objective examination is sufficient to suspect this syndrome. And then additional diagnostic methods are applied. Surgical intervention is carried out in the event of instability on the spine with the aim of eliminating it, as well as correcting scoliosis. Therapy of accompanying anomalies - kidney, neurological disorders, hearing disorders. Physical therapy is also recommended, which gives modest results. The life span of people with Klippel-Feil syndrome is shortened due to frequent anomalies of the internal organs. Case report: The paper presents a girl aged 10 years and 10/12 months. Pronounced hypertelorism. On the upper lip, a scar after cleft lip and palate surgery, left. Teeth carious, irregularly arranged. Neck short with pterygium. Low hairline. Pronounced scoliosis. High position of the shoulder blades. Abdominal ultrasound shows agenesis of the right kidney. IVP - the right kidney is not shown, the left kidney is compensatory enlarged. A diagnosis of Klippel Feil syndrome was made in a tertiary institution. Parents refuse further tests and treatment. Conclusion: In every child with Klippel-Feil syndrome, further examination and detection of accompanying, hidden anomalies that may be more important than the neck deformity is necessary.