A case of Klippel-Feil syndrome with renal agenesis

Klippel-Feil syndrome (KFS) is a rare syndrome that characterized by fusion of at least two congenital vertebrae in the cervical region. The most common characteristics of KFS are short neck, low nuchal hair line and restricted joint mobility of the cervical region. Additional features are scoliosis, sipina bifida, cervical rib, Sprengel deformity and facial asymmetry, and renal and cardiac anomalies. In this report a 10 years old girl was admitted with complaints of short stature and abnormal neck curvature. Physical examination of the patient revealed short neck, low nuchal hair line, and Sprengel's deformity, height hard palate, facial asymmetry and torticollis. Cervical paravertebral muscle spasm was found on the left as (+) / right (+ +). Muscle tone, muscle strength, reflexes and sensory examination were found to be normal. Radiological examination of the C4-5 and C6-7 cervical region revealed the loss of interverebral disc spaces and block vertebra. Also there was hemivertebra anomaly and aplasia of odontoid process. Abdominal and pelvic ultrasound examination revealed absence of right kidney. Echocardiographical examination gave no abnormality. The case was presented in order to draw attention to KFS with renal agenesia in the light of current literature.