The skeletal and ocular findings overlap with other conditions, but FBN1 genetic testing and clinical assessment using the Ghent nosology is recommended. Loeys Dietz Syndrome is a related aortopathy, associated with changes in other genes in the same pathway (TGFBR1, TGFBR2, SMAD3, TGFB2, TGF...
Marfan syndrome is an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body. Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton. 马凡综合征是一种遗...
Mutations in FBN1 may be associated with depleted or abnormal adipose tissue, seen in some patients with Marfan syndrome and lipodystrophies. As this lack of adipose tissue does not result in high morbidity or mortality, it is generally under-appreciated, but is a cause of psychosocial ...
Associated conditions ·bone mineral density (BMD) may be lower in patients with Marfan syndrome obased on cohort study o73 children aged 3-17 years with Marfan syndrome had BMD assessed §44 children were reassessed at 1-year and 2.3-year follow-up ...
Marfan syndrome is an autosomal dominant connective tissue disorder associated with an abnormal vitreous architecture, myopic astigmatism, and characteristic skeletal features, including increased height with disproportionately long limbs and digits, scoliosis, lumbar lordosis, joint laxity, a crowded, high-ar...
Marfan syndrome (MFS) is an autosomal dominant inherited disease associated with systemic connective tissue disorders, particularly involving the ocular, cardiovascular, and skeletal systems. Age Differences in Axial Length, Corneal Curvature, and Corneal Astigmatism in Marfan Syndrome with Ectopia Lentis ...
Genitourinary Tract in Women with Marfan Syndrome Pelvic organ prolapse and urinary stress incontinence in women are multifactorial in etiology. The etiologic factors associated with these two conditions a... C Jabs,AH Child - Springer London 被引量: 2发表: 2016年 Perioperative outcomes following pel...
Ehlers-Danlos syndrome type IV are the main differential diagnoses; in adulthood, the differential diagnosis includes other Ehlers-Danlos syndromes, Marfan syndrome and Loeys-Dietz syndrome... DP Germain - 《N Engl J Med》 被引量: 311发表: 2007年 Problems in the orofacial region associated with...
Marfan syndrome (MFS) is an inherited connective tissue disorder, noteworthy for its worldwide distribution, relatively high prevalence, and clinical variability, as well as pleiotropic manifestations involving primarily the ocular, skeletal, and cardiov
Marfan Syndrome (MFS), a connective tissue disorder, resulting from mutations in the Fibrillin-1 gene, is associated with several clinical manifestations with the most life-threatening being aortic aneurysm, dissection, and rupture. The mechanism underlying MFS pathogenesis seems to result from ...