Ludwig Boltzmann Institute of Osteology, at the Hanusch Hospital of WGKK and, AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital, Vienna, Austria.
Int J Med Sci. 2013 Aug 3;10(9):1250-8. doi: 10.7150/ijms.4997. Print 2013.
To further investigate the underlying pathology of axial and appendicular skeletal abnormalities such as painful spine stiffness, gait abnormalities, early onset osteoarthritis and patellar instability in patients with Stickler syndrome type I. Radiographic and tomographic analyses were organized.
From a series of Stickler syndrome patients followed from early life to late childhood. Ten patients (6 boys and four girls of different ethnic origins were consistent with the diagnosis of Stickler syndrome type I ). Phenotypic characterization was the baseline tool applied for all patients and genotypic correlation was performed on four families
A constellation of axial abnormalities namely; anterolateral ossification of the anterior longitudinal spinal ligament with subsequent fusion of two cervical vertebrae, early onset Forestier disease (progressive spinal hyperostosis with subsequent vertebral fusion on top of bridging osteophytes and "Bamboo-like spine" resembling ankylosing spondylitis) and severe premature spine degeneration were evident. Appendicular abnormalities in connection with generalized epiphyseal dysplasia were the underlying aetiology in patients with Intoeing gait and femoral anteversion, early onset severe osteoarthritis of the weight bearing joint. Remarkable trochleo-patellar dysplasia secondary to severe osteoarthritis causing effectively the development of patellar instability was additional pathology. Mutation of COL2A1 has been confirmed as the causative gene for Stickler syndrome type I CONCLUSION: We concluded that conventional radiographs and the molecular determination of a COL2A1 in patients with (Stickler syndrome type I) are insufficient tools to explain the reasons behind the tremendous magnitude of axial and appendicular skeletal abnormalities. We were able to modify the criteria of the clinical phenotype as designated by Rose et al in accordance with the novel axial and appendicular criteria as emerged from within our current study.
进一步探讨轴性和附肢骨骼异常的潜在病理学，如脊柱僵硬疼痛、步态异常、早发性骨关节炎和髌骨不稳定，这些异常在 I 型 Stickler 综合征患者中较为常见。进行了影像学和断层分析。
从一系列从早期生命到晚期儿童期随访的 Stickler 综合征患者中。选择 10 名患者（6 名男孩和 4 名女孩，来自不同种族，均符合 I 型 Stickler 综合征的诊断）。表型特征是所有患者的基线工具，对 4 个家族进行了基因型相关性分析。
明显的轴性异常包括：前纵韧带前外侧骨化，随后融合两个颈椎，早发性 Forestier 病（进行性脊柱过度骨化，随后融合在桥接骨赘和“竹样脊柱”上，类似于强直性脊柱炎）和严重的早期脊柱退变；与全身性骨骺发育不良相关的附肢异常是导致患者出现内翻步态和股骨前倾角、早发性负重关节严重骨关节炎的根本原因。由于严重的骨关节炎导致的滑车-髌骨发育不良，实际上导致了髌骨不稳定的发展，这是另一种病理情况。COL2A1 的突变已被证实是 I 型 Stickler 综合征的致病基因。
我们得出结论，传统的放射学和 COL2A1 的分子测定不足以解释轴性和附肢骨骼异常的巨大程度。我们能够根据我们当前研究中出现的新的轴性和附肢标准，对 Rose 等人指定的临床表型标准进行修改。
