Cormier-Daire Valérie
Department of Medical Genetics and INSERM U781, Université Paris V, Hopital Necker Enfants Malades, Paris, France.
Best Pract Res Clin Rheumatol. 2008 Mar;22(1):33-44. doi: 10.1016/j.berh.2007.12.009.
The spondylo-epi-metaphyseal dysplasias (SEMD) are a heterogeneous group of disorders comprising more than 20 distinct entities with differing modes of inheritance, all defined by the combination of vertebral, epiphyseal and metaphyseal abnormalities. The presenting symptom of SEMD patients is usually disproportionate short stature. The diagnosis is either based on the specificity of the skeletal manifestations or on the presence of characteristic extraskeletal features which may appear during the course of the disease, highlighting the importance of follow-up of SEMD patients. The complications are variable but epiphyseal dysplasia is often a predominant feature, and the course of the disease is marked by premature osteoarthritis. A systematic survey of odontoid hypoplasia responsible for atlantoaxial instability with a risk of spinal cord is also required.
脊椎骨骺干骺端发育不良（SEMD）是一组异质性疾病，包括20多种不同的实体，具有不同的遗传方式，所有这些都由椎体、骨骺和干骺端异常的组合来定义。SEMD患者的主要症状通常是身材不成比例的矮小。诊断要么基于骨骼表现的特异性，要么基于疾病过程中可能出现的特征性骨骼外特征，这突出了对SEMD患者进行随访的重要性。并发症各不相同，但骨骺发育不良往往是主要特征，疾病过程以早发性骨关节炎为特征。还需要对导致寰枢椎不稳定并有脊髓风险的齿状突发育不全进行系统调查。
