Abstract：
Hereditary connective tissue disorders include more than 200 conditions affecting different organs and tissues, compromising the biological role of the extracellular matrix through interference in the synthesis, development, or secretion of collagen and/or its associated proteins. The clinical phenotype includes multiple signs and symptoms, usually nonspecific but of interest to rheumatologists because of musculoskeletal involvement. The patient´s journey to diagnosis is long, and physicians should include these disorders in their differential diagnoses of diseases with systemic involvement. In this review, insights for the diagnosis and treatment of osteogenesis imperfecta, hypermobility spectrum disorder/Ehlers-Danlos syndrome, Marfan, Loeys-Dietz, and Stickler syndromes are presented.
摘要：
遗传性结缔组织疾病包括200多种影响不同器官和组织的疾病，通过干扰合成来损害细胞外基质的生物学作用，发展,或分泌胶原蛋白和/或其相关蛋白质。临床表型包括多种体征和症状，通常非特异性，但由于肌肉骨骼受累，风湿病学家感兴趣。病人的诊断过程很长,医生应该将这些疾病包括在他们对有系统参与的疾病的鉴别诊断中。在这次审查中,成骨不全症的诊断和治疗见解，高移动谱障碍/Ehlers-Danlos综合征,马凡,Loeys-Dietz,并介绍了Stickler综合征。
