Sariyilmaz Kerim, Ozkunt Okan, Korkmaz Murat, Dikici Fatih, Domanic Unsal
Department of Orthopedics and Traumatology, Acibadem University Atakent Hospital, Istanbul, Turkey.
Department of Orthopedics and Traumatology, Etfal Training and Research Hospital, Istanbul, Turkey.
J Craniovertebr Junction Spine. 2017 Jul-Sep;8(3):283-284. doi: 10.4103/jcvjs.JCVJS_133_16.
A 16-year-old boy who had been diagnosed previously as Aarskog-Scott syndrome (AAS), referred to our clinic with shoulder asymmetry for 1 year. Results of spine examination showed a 52° right thoracic curve at T3-T11. Surgery was planned, and T1-L1 posterior instrumentation and fusion were performed. After surgery, satisfactory correction was achieved, and during 10 years follow-up, the patient had no complaints. AAS is a X-linked genetic disorder with facial, genital, and skeletal manifestations. Scoliosis is not reported as a typical finding of AAS, and there is no reported case in the English literature. Due to mutation affecting the developing skeleton tissue, spinal deformities may develop. In our case, concave side fusion was seen at the deformity. Although we do not know any specific pattern of the scoliotic deformity of this syndrome, surgical correction of the deformity can be difficult because of the premature fusion at these levels.
一名16岁男孩，此前被诊断为Aarskog-Scott综合征（AAS），因肩部不对称1年前来我院就诊。脊柱检查结果显示，在T3 - T11处有一个52°的右胸弯。计划进行手术，并实施了T1 - L1后路内固定和融合术。术后获得了满意的矫正效果，在10年的随访期间，患者无任何不适主诉。AAS是一种具有面部、生殖器和骨骼表现的X连锁遗传病。脊柱侧弯并非AAS的典型表现，英文文献中也未报道过相关病例。由于突变影响发育中的骨骼组织，可能会出现脊柱畸形。在我们的病例中，在畸形处可见凹侧融合。虽然我们不知道该综合征脊柱侧凸畸形的任何特定模式，但由于这些节段的过早融合，畸形的手术矫正可能会很困难。
