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Reviewing hereditary connective tissue disorders: Proposals of harmonic medicolegal assessments.
Galante, Nicola; Bedeschi, Maria Francesca; Beltrami, Benedetta; Bailo, Paolo; Silva Palomino, Laura Alicia; Piccinini, Andrea.
Afiliação
  • Galante N; Section of Legal Medicine of Milan, University of Milan, Via Luigi Mangiagalli 37, 20133, Milan, Italy. nicola.galante@unimi.it.
  • Bedeschi MF; Department of Biomedical Sciences for Health, University of Milan, Via Luigi Mangiagalli 37, 20133, Milan, Italy. nicola.galante@unimi.it.
  • Beltrami B; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Medical Genetic Unit, Milan, Italy.
  • Bailo P; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Medical Genetic Unit, Milan, Italy.
  • Silva Palomino LA; Section of Legal Medicine of Milan, University of Milan, Via Luigi Mangiagalli 37, 20133, Milan, Italy.
  • Piccinini A; Department of Biomedical Sciences for Health, University of Milan, Via Luigi Mangiagalli 37, 20133, Milan, Italy.
Int J Legal Med ; 2024 Jul 15.
Article em En | MEDLINE | ID: mdl-39008115
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Int J Legal Med Assunto da revista: JURISPRUDENCIA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Itália

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Int J Legal Med Assunto da revista: JURISPRUDENCIA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Itália