Marfan syndrome a. Steinberg sign (thumb sign); b. Walker sign (wrist sign). oreduced upper segment to lower segment ratio oincreased arm span to height ratioIMAGE3OF7 Marfan syndrome Patient at age 13 years. ·facial features may include ...
A patient with Marfan syndrome without a previously documented lung abnormality developed left-sided spontaneous pneumothorax, with complete recovery follo... S Berliner,H Dean,J Pinkhas - 《Respiration》 被引量: 4918发表: 1981年 Marfan syndrome caused by a recurrent de novo missense mutation in ...
Marfan syndrome (MFS) is the autosomal dominant-inherited multisystem connective-tissue disorder, with a reported incidence of 1 in 10,000 individuals and equal distribution in both genders. The main clinical manifestation of this disorder consists of an exaggerated length of the upper and lower limb...
J Hum Genet (2008) 53:1007–1011 DOI 10.1007/s10038-008-0334-7 SHORT COMMUNICATION An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease Dong-chuan Guo Æ Prateek Gupta Æ Van Tran-Fadulu Æ Tera V. Guidry Æ Magalie ...
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 nationwide cohort of Danish Marfan syndrome patients was established from the Danish National Patient Registry and the Cause of Death Register, where we retrieved information about aortic surgery and dissections. We associated aortic events with age, sex, and Marfan syndrome diagnosis prior or ...
Marfan syndrome is named for the French pediatrician, Antoine Marfan, who was the first to notice and describe the condition in 1896. His patient was...Become a member and unlock all Study Answers Start today. Try it now Create an account Ask a question Our experts can answer your ...
Keywords: rare diseases; oral health-related quality of life; OHRQoL; Marfan; patient reported outcome; OHIP-14 1. Introduction In the European Union, a disease is considered "rare" if it affects less than one in 2000 people [1]. Hereditary connective tissue diseases such as Marfan syndrome ...
Marfan syndrome (MFS) is a hereditary condition accompanied by disorders in the structural and regulatory properties of connective tissue, including elastic fibers, due to a mutation in the gene encodes for fibrillin-1 protein (FBN1 gene) and the synthesis of abnormal fibrillin-1 glycoprotein. Des...
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