[pdf] Microsoft PowerPoint - Policlinico S.Orsola-Malpighi

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MFS *Test genetico: -Per paziente La Sindrome di Loeys-Dietz -Per cardiologo, cardiochirurgo, altri specialisti per stabilire terapia/follow-up/timing evt intervento/etc. -Per precoce identificazione 25 Maggio di 2012 altri - familiari a rischio -Per poter escludere dal follow-up familiari negativi al test *Diagnosi Prenatale
MFS Sindrome di Loeys-Dietz Differential diagnosis Disorder Gene Discriminating features Marfan syndrome FBN1 Ectopia lentis Loeys-Dietz syndrome (LDS) TGFBR1/2 Bifid uvula/cleft palate, arterial tortuosity, hypertelorism, diffuse aortic and arterial aneurysms, craniosynostosis, clubfoot, cervical spine instability, thin and velvety skin, easy bruising Aneurysms-Osteoarthritis syndrome (LDS3?) SMAD3 Osteoarthritis, osteochondritis dissecans Syndromic TAA (LDS4?) TGFB2 Like LDS Shprintzen-Goldberg syndrome (SGS) FBN1, SKI and other Craniosynostosis, mental retardation Congenital contractural arachnodactyly (CCA) FBN2 Crumpled ears, contractures 25 Maggio 2012 - Weill-Marchesani syndrome (WMS) FBN1 and ADAMTS10 Microspherophakia, brachydactyly, joint stiffness Ectopia lentis syndrome (ELS) FBN1 Lack of aortic root dilatation LTBP2 ADAMTSL4 Homocystinuria CBS Thrombosis, mental retardation Familial thoracic aortic aneurysm syndrome (FTAA) TGFBR1/2, ACTA2 Lack of Marfanoid skeletal features, livedo reticularis, iris, flocculi FTAA with bicupid aortic valve (BAV) -- FTAA with patent ductus arteriosus (PDA) MYH11 Arterial tortuosity syndrome (ATS) SLC2A10 Generalised arterial tortuosity, arterial stenosis, facial dysmorphism Ehlers-Danlos syndromes (vascular, valvular, kyphoscoliotic) COL3A1, COL1A2, PLOD1 Middle sized artery aneurysm, severe valvular insufficiency, translucent skin, dystrophic scars, facial characteristics
Page 1 and 2: 2° Convegno Regionale sulla Sindro
Page 3 and 4: MFS La Sindrome di Loeys-Dietz - La
Page 5 and 6: La Sindrome di Loeys-Dietz PubMed s
Page 7 and 8: Loeys, N Engl J Med 2006;355:788-98
Page 9 and 10: La Sindrome di Loeys-Dietz Trasmiss
Page 11: Sospetta S. di Loeys-Dietz: La Sind
Page 15 and 16: MFS La Sindrome di Loeys-Dietz Int
Page 17 and 18: Age (y)/ Sex (M/F) Casistica LDS Ge

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