Marfan Syndrome is an autosomal dominant disorder caused by mutation in the extracellular matrix protein fibrilin-1 gene located on chromosome 15. It has variable range of expression.We describe a ...
opatients do not present with all features, and some patients may be asymptomatic until complications arise ohigh interfamilial and intrafamilial variability in clinical presentation opotentially insidious presentation contributes to wide age range of onset ·clinical presentation of Marfan syndrome varies ...
Conclusions: The diagnosis of Marfan Syndrome depends on family histories, clinical features and laboratory results. 结论:结合家族史、临床表现及有关的辅助检查可对马凡氏综合征作出诊断。 www.chemyq.com 2. Objective Clinical symptom of Marfan syndrome and condition of undertaking ophthalmic surgery was ...
例句Objective:To study the clinical features of scoliosis in Marfan syndrome treated with surgery andto evaluate the clinical efficacy of the surgical treatment. 目的:探讨马凡综合征合并脊柱侧弯的临床特点以及评价手术治疗的临床疗效。 syndrome 英['sɪndrəʊm] 美 ['sɪndrəm] 释义n. [...
Marfan syndrome is a spectrum of heritable disorders of connective tissue with a high degree of clinical variability. Gastrointestinal Symptoms in Marfan Syndrome and Hypermobile Ehlers-Danlos Syndrome Genetic Testing Panel for Marfan Syndrome and Next-Generation Sequencing. Identification of Novel Causal ...
Marfan syndrome is a multisystem connective tissue disorder usually associated with mutation in fibrillin, and occasionally with mutation in TGFBR1 or 2. The clinical diagnosis is made using the Ghent nosology, which will unequivocally diagnose or exclude Marfan syndrome in 86% of cases. Use of a...
The skin findings in Buschke–Ollendorff syndrome are prominent and represent the main clue to diagnosis, whereas in Marfan syndrome and osteogenesis imperfecta the bone modifications are diagnostic and skin findings secondary. This chapter describes the clinical features needed to make the diagnosis of ...
The features of Marfan syndrome are age dependent. Some severely affected infants have flagrant features and often die of mitral regurgitation and heart failure despite aggressive management. At the other end of the clinical spectrum, Marfan syndrome merges with several related disorders, and patients ...
作者: Bert Callewaert MD Research Fellow,Fransiska Malfait MD, PhD Research Fellow,Bart Loeys MD, PhD Clinical Geneticist and Senior Researcher,Anne De Paepe MD, PhD Professor and Head of Department 展开 摘要: Ehlers-Danlos syndromes (EDS) and Marfan syndrome (MFS) are multisystemic disorders ...
Marfan syndrome is a systemic disorder of connective tissue with a high degree of clinical variability. Cardinal manifestations involve the ocular, skeletal, and cardiovascular systems. FBN1 mutations associate with a broad phenotypic continuum, ranging from isolated features of Marfan syndrome to neonata...