Hospital for Special Surgery, 535 East 70th Street, New York, NY 10021, USA.
HSS J. 2009 Sep;5(2):120-2. doi: 10.1007/s11420-009-9111-1. Epub 2009 Jun 17.
Schinzel-Giedion syndrome (SGS) is a rare disorder characterized by midface retraction, hypertrichosis, and multiple skeletal anomalies with severe mental retardation. Various skeletal manifestations of the disease have been previously described. We present the first case of SGS developing scoliosis. The patient presented with scoliosis at the age of 8 years which rapidly progressed to severe thoraco-lumbar scoliosis. Survival beyond 2 years is rare in this syndrome. The objective of this report is to describe the possibility of development of scoliosis in SGS due to the neuromuscular nature of the syndrome, especially in long survivors.
Schinzel-Giedion 综合征（SGS）是一种罕见的疾病，其特征为中面部后缩、多毛症和多种骨骼异常，伴有严重的智力迟钝。该疾病的各种骨骼表现以前已有描述。我们报告首例 SGS 发展为脊柱侧凸。该患者 8 岁时出现脊柱侧凸，病情迅速进展为严重的胸腰椎侧凸。在该综合征中，生存时间超过 2 年的情况很少见。本报告的目的是描述由于该综合征的神经肌肉性质，尤其是在长期幸存者中，SGS 发生脊柱侧凸的可能性。
