Patil Siddram J, Bhat Meenakshi, Rao Sanjay, Krishnan R S Rama
Department of Medical Genetics, Naryana Hrudayalaya Institute of Medical Sciences, Bangalore, India.
Indian J Pediatr. 2009 Apr;76(4):417-9. doi: 10.1007/s12098-009-0017-1. Epub 2009 Feb 10.
Spondylocarpotarsal synostosis (SS) is a disorder of abnormal vertebral segmentation. Clinically manifest as kyphoscoliosis/scoliosis with characteristic radiographic findings vertebral, carpal and tarsal bone fusion. It is inherited as an autosomal recessive disorder. The present study report a case of SS and describe the clinical and radiological manifestations. In addition to classical signs, neuroimaging revealed cervical spine abnormalities, further supporting the importance of spine imaging in such cases.
脊椎腕跗骨融合症（SS）是一种椎体节段异常的疾病。临床表现为脊柱后凸/侧弯，并伴有椎体、腕骨和跗骨融合的特征性影像学表现。它作为常染色体隐性疾病遗传。本研究报告了一例SS病例，并描述了其临床和影像学表现。除了典型体征外，神经影像学显示颈椎异常，进一步支持了在此类病例中脊柱成像的重要性。
