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Spondylocarpotarsal synostosis: a rare case of vertebral segmentation defect
Siddram J Patil1, Meenakshi Bhat, Sanjay Rao
1Department of Medical Genetics, Naryana Hrudayalaya Institute of Medical Sciences, Bangalore, India. drsjpatil@gmail.com
Abstract:
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.
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