Abstract：
Hereditary connective tissue disorders (HCTDs) are a heterogeneous group of inherited diseases. These disorders show genetic mutations with loss of function of primary components of connective tissue, such as collagen and elastic fibers. There are more than 200 conditions that involve hereditary connective tissue disorders, while the most known are Marfan syndrome, Osteogenesis Imperfecta, and Ehlers-Danlos syndromes. These disorders need continuous updates, multidisciplinary skills, and specific methodologic evaluations sharing many medicolegal issues. Marfan syndrome and Ehlers-Danlos syndromes show a high risk of early sudden death. As a consequence of this, postmortem genetic testing can identify novel genotype-phenotype correlations which help the clinicians to assess personalized cardiovascular screening programs among the ill subjects. Genetic testing is also essential to identify children suffering from Osteogenesis Imperfecta, especially when a physical abuse is clinically suspected. However, this is a well-known clinical problem even though there are still challenges to interpret genetic data and variants of unknown significance due to the current extensive use of new genetic/genomic techniques. Additionally, the more significant applications and complexities of genomic testing raise novel responsibilities on the clinicians, geneticists, and forensic practitioners as well, increasing potential liability and medical malpractice claims. This systematic review provides a detailed overview on how multidisciplinary skills belonging to clinicians, medicolegal consultants, radiologists, and geneticists can cooperate to manage HCTDs from autopsy or clinical findings to genetic testing. Thus, technical aspects need to be addressed to the medicolegal community since there is no consensus works or guidelines which specifically discuss these issues.
摘要：
遗传性结缔组织疾病（HCTDs）是一组异质性的遗传性疾病。这些疾病表现为结缔组织主要成分功能丧失的基因突变，如胶原蛋白和弹性纤维。有200多种疾病涉及遗传性结缔组织疾病，最著名的是马凡氏综合症,成骨不全症,还有Ehlers-Danlos综合征.这些疾病需要不断更新，多学科技能，和具体的方法学评估分享了许多法医学问题。Marfan综合征和Ehlers-Danlos综合征显示早期猝死的高风险。因此，验尸基因检测可以识别新的基因型-表型相关性,这有助于临床医生评估患病受试者的个性化心血管筛查方案.基因检测对于识别患有成骨不全症的儿童也至关重要，特别是当临床怀疑身体虐待时。然而,这是一个众所周知的临床问题,尽管由于目前新的遗传/基因组技术的广泛使用,解释遗传数据和意义未知的变异仍然存在挑战.此外,基因组测试的更重要的应用和复杂性提高了临床医生的新责任，遗传学家,还有法医，增加潜在的责任和医疗事故索赔。本系统综述详细概述了属于临床医生的多学科技能，法警顾问,放射科医生,遗传学家可以合作管理HCTDs，从尸检或临床发现到基因检测。因此，由于没有专门讨论这些问题的共识或指南，因此需要向法医学界解决技术方面的问题。
