A Case of Rieger's Syndrome with Leg Length Discrepancy.

概要

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Rieger's syndrome is a disease of mesodermal dysgenesis of the cornea and iris associated with nonocular (teeth, bone and joint etc.) developmental defects. The patient is a 17-year-old girl, who complained of leg length discrepancy. She had Rieger's anomaly characterized by posterior embryotoxon, hypoplasia of the anterior leaf of the iris and strands bridging over the iridocorneal angle associated with hydroceplalus, flat nasal root, sensory deafness, mitral insufficiency, shortening of her left lower extremity. The leg length discrepancy measured by the spina-malleolar distance was 3.5cm. Radiographic findings showed hypoplasia of the maxilla, defects of upper teeth, flattened femoral head, hypoplasia of the distal femoral and distal tibial epiphyses. These clinical and radiographic findings confirm the diagnosis of Rieger's syndrome.
西日本整形・災害外科学会の論文