Surgical correction of severe kyphoscoliosis resulting in a neurological complication in Marshall–Smith syndrome

Excerpt

Marshall–Smith syndrome (MSS) is a rare syndrome characterized by facial dysostosis, respiratory difficulties, mental retardation, and short height [1]. MSS is thought to be associated with NFIX gene mutation [2]. Spine deformity due to a primary abnormality in bone morphogenesis is also reported in the literature [3]. Untreated progressive spinal deformity in a young MSS patient may cause serious health consequences. Therefore, surgical intervention for progressive kyphoscoliosis in a patient with MSS needs to be conducted at an appropriate time. So far, there has been no report regarding surgical correction of spinal deformity in MSS. However, because of dysostosis, spinal canal dysplasia such as cervical canal stenosis may also present in MSS patients [3‐5]. Here, we report an MSS patient who underwent surgical correction of severe kyphoscoliosis and came through a neurological complication resulting from cervical canal stenosis. …