Klippel-Feil syndrome with unilateral renal agenesis and renal failure.

Sir, T triad of short neck, low posterior hairline and severe restriction of cervical motion is a classic definition of KlippelFeil syndrome. Klippel-Feil syndrome (KFS) is characterized by congenital fusion of two or more cervical vertebrae and is believed to result from faulty segmentation along the embryo’s developing axis during the second to eighth week of gestation. This is commonly associated with many congenital malformations. The anatomic and clinical expressions of this syndrome vary widely, ranging from mild cosmetic deformity to severe disability and end stage target organ diseases such as renal failure. Hereby, we report a patient with KFS who had unilateral renal agenesis and presented with end stage renal disease. Diagnosis of KFS should stimulate careful search for other associated abnormalities. A 27 year old male, unmarried from rural background was admitted with complaints of progressive generalized weakness, dyspnea on exertion, puffiness of face for one month and severe anorexia, hiccoughs and decreased urine output for about a week. When his history was traced back, he had short neck, slight facial dysmorphism and restriction of neck movements since childhood. There had been no major trauma, surgery, systemic illness or prolonged treatment in the past. His parents were alive with no significant illnesses. On examination, his height was 146 cms. There was severe pallor, anasarca, limitation of neck extension and rotation, low hair line, scoliosis and Sprengel’s deformity of the left scapula. His blood pressure was 180/90 mmHg. Abdomen examination revealed presence of ascites and auscultation of chest showed presence of few basal History Taking : Still a Valuable Tool in Today’s Era of Modern Medicine