Riddhi Jain, Suneel C Mundkur, Karen Janice Moras, Rochelle Anne Pereira, Divya Mary George.
Department of Paediatrics, Kasturba Medical College, Manipal, Karnataka, India.
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Abstract
First elaborated in 1912 by French physicians Maurice Klippel and Andre Feil, Klippel-Feil syndrome is a congenital condition characterised by faulty segmentation along the embryo’s developmental axis from the 3rd to the 8th week of gestation, resulting in the fusion of two or more cervical vertebrae.1,2 It consists of a clinical triad consisting of a short neck, a limited range of neck motion and a low posterior hairline. However, less than half of the reported cases fulfil the complete triad. There is extensive heterogeneity in presentation involving a wide spectrum of anomalies in the musculoskeletal, central nervous system, auditory, cardiovascular and urogenital System.3 Commonly associated defects include scoliosis, deafness (conductive or sensorineural), mental retardation, Sprengel deformity, renal agenesis and congenital heart defects, the most common being ventricular septal defects.4 Here we present a rare case of Klippel-Feil syndrome with crossed-fused renal ectopia and a large atrial septal defect.
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