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A Journal on Dentistry and Maxillofacial Surgery
Minerva Stomatologica 2003 October;52(10):457-70
Skeletal and occlusal alterations in the diagnosis of marfan syndrome
Incisivo V., Silvestri A.
The Marfan syndrome is an autosomal dominant hereditary connective tissue disorder with variable expressivity. The incidence is estimated to be at least 1 case per 10000 individuals in most populations. The syndrome is caused by mutations in the gene coding for Fibrillin-1 (FBN1), an extracellular matrix glyco-protein. The gene responsible for the mutations was identified in the chromosome 15q21.1 region. Presented for the first time in 1896 by Dr Antoine Bernard Marfan, it was subsequently included among hereditary disorders of the connective tissue. Nowadays the Marfan syndrome is considered to be a heterogeneous pathology, that can derive from many mutations in the gene coding for Fibrillin-1. The ocular, cardiovascular and skeletal manifestations present in the individual affected by Marfan syndrome are consistent with a defect in the gene coding for a structural component of the connective tissues. From the different expressivity derive 4 types or variants of the syndrome: a) asthenia; b) non-asthenia; c) arachnodactyly; e) abnormal joint mobility. In this study the authors show that radiography and cephalometry analysis are important as diagnosis techniques in order to make an early diagnosis of Marfan syndrome, carry out differential diagnosis with other maxillo-facial pathologies and correct the therapeutic ap-proach (orthodontic or surgical) of this syndrome.