《Table 1 Clinic features of the patients in the pedigree》

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《A novel mutation in FBN1 gene in autosomal dominant Marfan syndrome and macular degeneration in a Chinese consanguineous family》

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Clinical Findings The proband is from a 4-generation consanguineous Chinese family consisting of 13 men and 8women（pedigree shown in Figure 1A）.Of 5 individuals in this pedigree were confirmed with the diagnosis MFS，clinical features were shown in Table 1.The median onset age of the patients was 29y，ranging from 22 to 62y.All 5 patients had typical ocular，skeletal and cardiovascular manifestations.Common MFS skeletal abnormalities like dolichostenomelia，pectus excavatum/carinatum，and scoliosis，joint laxity and arachnodactyly were observed in all affected family members.Cardiovascular findings including aortic aneurysm，tricuspid/mitral valve insufficiency，tricuspid/aortic valve regurgitation，mitral valve prolapse were noted in patient III:5 and III:9，both received Bentall surgery.Shared ophthalmic findings include high myopia，bilateral lens dislocation，and peripheral retinal degeneration.The proband III:4 presents with an acute angleclosure glaucoma secondary to anteriorly dislocated lens after mild trauma in the left eye（Figure 1B-1D）.She had lensectomy and scleral fixated intraocular lens（SF-IOL）implantation in both eyes.Her visual acuity is 0.4 for her better eye，and 0.2for worse eye.Moreover，the proband and her brother（III:5）present an unusual bilateral macular degeneration appearance in both eyes（Figure 1E-1L）.Patient II:3 deceased of dissecting aneurysm at the age of 30，his off-springs III:6，III:7，and III:8 all died in utero or at very early age with“reasons unidentified”.