Loeys-dietz syndrome vs marfan syndrome: hereditary connective tissue syndromes, a diagnostic challenge. report of a case

The diagnosis of Marfan syndrome (MFS) is based on clinical characteristics already defined in the Ghent nosology, and agreed by the opinion of international experts to recognize this syndrome. 9 These Ghent criteria are mentioned here, which include a set of Major and minor criteria in different body systems, and which have been shown to be applicable to this condition, since with these criteria the diagnosis has been confirmed in more than 95% of the patients, described in the literature. However, it is not always easy to reach the diagnosis, since some of the diagnostic criteria are not applicable to children. And failure to accurately recognize the variable clinical expression can delay follow-up and decision-making in these patients. This article describes a case report of a patient with clinical characteristics of Marfan syndrome, which are transposed with some characteristics of Loeys-dietz, in the absence of family history.