Rand-Hendriksen S, Christensen B
Trenings- og Rådgivnings Senteret Sunnaas sykehus, Nesoddtangen.
Tidsskr Nor Laegeforen. 1998 Aug 10;118(18):2796-9.
Marfan's syndrome is a relatively frequent autosomal dominant condition which is due to structural or quantitative changes in a connective tissue protein, fibrillin. The syndrome is associated with life-threatening changes in the aorta and serious manifestations in many different organ systems. Unclear diagnostic criteria and lack of use of the criteria in clinical practice may have led to overdiagnosing this syndrome in individuals with a long and slender habitus. This in turn can lead to negative consequences for both the individual and his or her family. Failure of diagnosis may cause even more harm, in particular because of the risk of sudden cardiac events. In 1996 an international group of experts proposed a set of revised criteria for Marfan's syndrome which takes into account molecular findings and family history (the Gent criteria). It is important that all practising physicians are aware of these criteria in order to prevent over- and underdiagnosing. A correct diagnosis is of major importance for medical follow-up, genetic counselling, habilitation, and counselling with regard to education and occupation.
马方综合征是一种相对常见的常染色体显性遗传病，由结缔组织蛋白原纤维蛋白的结构或数量变化引起。该综合征与主动脉危及生命的变化以及许多不同器官系统的严重表现相关。不明确的诊断标准以及临床实践中未使用这些标准，可能导致对身材瘦长的个体过度诊断该综合征。这进而可能给个体及其家庭带来负面后果。诊断失误可能造成更大危害，尤其是因为存在心脏猝死的风险。1996年，一个国际专家小组提出了一套修订后的马方综合征诊断标准，该标准考虑了分子学发现和家族史（根特标准）。所有执业医师都了解这些标准很重要，以防止过度诊断和诊断不足。正确诊断对于医学随访、遗传咨询、康复治疗以及教育和职业咨询至关重要。
