Table 1. Differential diagnosis (adapted from The Marfan Foundation)

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Presentation transcript:

Table 1. Differential diagnosis (adapted from The Marfan Foundation) Condition Sympton overlap with Marfan Syndrome Discriminating features Discriminating Features Loeys-Dietz Syndrome - Aortic root enlargement and dissection - Variable skeletal findings - Dural ectasia - Strech Marks - Craniosynostosis - Diffuse aortic and arterial aneurysms and dissections - Arterial tortuosity - Gastrointestinal problems - Cleft palate/ bifid uvula - Club foot - Cervical spine instability - Hypertelorism - Thin and velvety skin - Easy bruising - Translucent skin - Dystophic scars TGFBR1 TGFBR2 Familial Thoracic Aortic Aneurysm and Dissection (FTAAD) - Aortic enlargement and dissection - Lack of marfanoid skeletal features - Iris flocculi - Levido reticularis - Dislocated lens and dural ectasia not found ACTA2 MYLK PRKG1 FTAAD with bicuspid aortic valve (BAV) - Aortic enlargement (root and ascending) and dissection - Male predominance - Aortis stenosis can occur Unknown FTAAD with patent ductus arteriosus (PDA) - Frequant PDA MYH11 Arterial tortuosity syndrome (ATS) - Generalyzed arterial tortuosity - Arterial stenosis - Facial dysmorphism SLC2A10 Ectopia lentis syndrome (dislocated lens) - Eye lens dislocation - Common skeletal findings - Aortic root dilation/aneurysms not found FBN-1 LTBP2 ADAMTSL-4 Shprintzen-Goldberg syndrome - Mitral valve prolapse -Skeletal findings - Myopia - Delayed motor and cognitive milestones - Mental retardetion - Aortic root dilatation is uncommon - C1-C2 abnormality SKI (rarely FNB-1) Ehlers-Danlos syndrome - Skeletal findings - Valve prolapse and Aortic enlargement and dissection in selected types only Vascular type: - Arterial, intestinal, uterine fragility and rupture - Characteristic facial appearance (thin lips and philtrum, small chin, thin nose, and large eyes - Thin translucent skin with easy bruising - Dystropic scars -Facial characteristics Hypermobility Type: - Joint subluxation common - Skin soft or velvety, may be mildly hyperextensible Kyphoscoliotic type: - Progressive scoliosis present at birth or within first year of life - Scleral fragility and rupture of the globe - Severe muscle hypotonia at birth - Friable, hyperextensible skin - Generalized joint laxity Classic type: - Skin fragility and hyperextensible - Widened atrophic scars - Joint hypermobility - Aortic root dilatation can occur COL3A1 (vascular) TNXB (hypermobility) PLOD1 (kyphoscoliotic) COL5A1/COL5A2 (classic) Homocystinuria - Eye lens dislocation and myopia - Arterial and venous thrombosis - Mental retardation - Seizures common CBS Beals syndrome(congenital contractural arachnodactyly) - Mitral valve prolapse and enlargement can occur - Crumpled appearance to the top of the ear - Inability to fully extend multiple joints such as fingers, elbows, knees, toes and hip contractures - Delay in motor development often occurs (due to congenital contractures) - Eyes are not affected - Dissections are very rare FBN-2 Stickler syndrome - Myopia retinal detachment joint hypermobility or contracture - Scoliosis - Hearing loss -Choriorentinal and vitreous degeneration are the hallmark of the syndrome - Orofacial involvement such as cleft palate - Premature osteoarthritis COL2A1 COL9A1 COL9A2 COL11A1 COL11A2 MASS phenotype - Aorta root diameter at the upper limits of normal - Skin (stretch marks) - Skeletal features (scoliosis, chest wall deformities, joint hypermobility) - Aorta does not progress in enlargement - Dislocated lenses not found FBN-1 (rarely) Gabriela Acucella et al. Isolated Dislocation of Ocular Lens. American Journal of Medical Case Reports, 2016, Vol. 4, No. 3, 97-100. doi:10.12691/ajmcr-4-3-7 © The Author(s) 2015. Published by Science and Education Publishing.