Section 37
Chapter 36,881

Marfans syndrome Clinical manifestations in the oral-craniofacial area, biophysiological roles of fibrillins and elastic extracellular microfibers, and disease control of the fibrillin gene

Nishikawa, T.; Yamamoto, T.; Honjo, K.-ichi; Ichioka, H.; Yamamoto, K.; Kanamura, N.; Kato, H.; Wato, M.; Kubo, T.; Mori, M.

Journal of Oral and Maxillofacial Surgery Medicine and Pathology


ISSN/ISBN: 2212-5558
DOI: 10.1016/j.ajoms.2013.02.014
Accession: 036880979

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Since French investigator Bernard-Jean Antoine Marfan's first report in 1896 on malformations of the head and bone system, the clinical manifestations of Marfan's syndrome have now been well established. Marfan's syndrome is a multisystem disorder that commonly affects the connective tissue associated with craniofacial skeletal lesions and cardiopulmonary disorders including sleep apnea. This article reviews current knowledge of craniofacial abnormalities in Marfan's syndrome and its genetic backgrounds. A strong correlation was found between maxillae/mandibular retrognathia, a long face, and a highly arched palate, and there were also many cephalometric features. Patients with Marfan's syndrome had severe periodontitis, with the majority of periodontal fibers being collagen, elastic, and oxytalan. Fibrillin-1 has been associated with microfibers and the gene of Marfan's syndrome is FBN1, which encodes fibrillin-1, a major microfibrillar protein. Activation of the signaling of TGF-? is thought to cause the pathogenesis of the cardiovascular abnormalities associated with this syndrome. The bone matrix, including fibrillin-1 and -2 in the major structural components of extracellular microfibrils, is the preeminent storage site of TGF-? and BMP. The present review highlighted genetic disorders as a mutation of the fibrillin gene of Marfan's syndrome as well as clinical manifestations including cardiovascular lesions in addition to craniofacial characteristics.

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