Le Parc J M, Molcard S, Tubach F, Boileau C, Jondeau G, Muti C, Chevallier B, Pisella P J
Service de rhumatologie, h pital Ambroise-Paré, UFR Paris-Ouest, université Rene-Descartes, Boulogne, France.
Joint Bone Spine. 2000;67(5):401-7.
Marfan syndrome is the second most common inherited connective tissue disorder after osteogenesis imperfecta. Musculoskeletal abnormalities are at the forefront of the clinical picture and count among the major diagnostic criteria for Marfan syndrome, together with cardiovascular and ocular system involvement. Early diagnosis is of the utmost importance since preventive measures significantly increase life expectancy and prevent the occurrence of impairments and disabilities. Marfan syndrome is due to mutations within the fibrillin-1 gene, which is the main protein of the microfibril network. Microfibrils play a crucial role in the trophicity and function of elastic tissue. Multidisciplinary management of the patients and their families is vital.
马凡综合征是仅次于成骨不全症的第二常见遗传性结缔组织疾病。肌肉骨骼异常是临床表现的首要特征，与心血管和眼部系统受累一同构成马凡综合征的主要诊断标准。早期诊断至关重要，因为预防措施可显著提高预期寿命，并防止出现损伤和残疾。马凡综合征是由原纤维蛋白-1基因内的突变引起的，该基因是微原纤维网络的主要蛋白质。微原纤维在弹性组织的营养和功能中起关键作用。对患者及其家庭进行多学科管理至关重要。
