Feingold syndrome is an autosomal dominant condition, and therefore, the diagnosis has important implications for genetic counseling.doi:10.1016/j.jpedsurg.2007.06.005McKusick, Victor ANatureThe defect in Marfan syndrom...
Boy, 15, died after being sent home with painkillers for severe chest pains; Euan Ellis was a known sufferer of a heart condition called Marfan syndrome - a genetic and sometimes fatal disorder - but despite this had not had a heart scan in four years The gene defect in Marfan syndrome ...
Marfan syndrome, which is characterized by manifestations in the skeletal, ocular and cardiovascular systems, is one of the most common inherited connective-tissue disorders. The independently performed genetic assignment of the Marfan locus and classical biochemical and immunohistochemical analyses complemented...
Marfan syndrome affects men and women equally and occurs among all races and ethnic groups. Because it's a genetic condition, the greatest risk factor for Marfan syndrome is having a parent with the disorder. 马凡综合征对男性和女性的影响是相等的,发生在所...
Genetic counseling is advisable for anyone thinking about having children, because of the risk that children will inherit the condition. Although there is no cure for Marfan syndrome, working closely with one's doctor in an ongoing monitoring and treatment program can greatly improve the outlook ...
Methods and Results: Using linkage analyses with polymorphic markers of the human genome, we mapped the genetic defect to chromosome 15 in live families with Marfan syndrome. With three polymorphic markers we obtained definitive proof of linkage in these families (lod score = 3.92, .theta. = ...
Marfan syndrometemporal bonetegmen defectCSF leakotorrheameningoceleBackground: Marfan syndrome (MFS) is a genetic disorder affecting connective tissue. The composition of the dura can change. Consequently, lumbo-sacral dural herniations and cerebrospinal fluid (CSF) leaks are encountered, however, they...
马凡综合征(Marfan syndrome,MFS)属于一种先天性、遗传性结缔组织病,为常染色体显遗传,1896年一位法国儿科医师首次描述了其以骨骼、眼及心血管三大系统的缺陷为主要特征。其特点是晶状体异位、先天性心脏病以及细长体型与蜘蛛指 ( 趾),故又名蜘蛛指(趾)综合征。个体表现差异较大,容易误漏诊,预后较差,发病率约 ...
(1990) Location on chromosome 15 of the gene defect causing Marfan syndrome. New Engl. J. Med. 323, 935–939 CrossRef Tsipouras P et al. (1992) The international Marfan syndrome collaborative study: Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural ...
oacromelic dysplasias include Weill-Marchesani syndrome, geleophysic dysplasia, acromicric dysplasia, and Myhre syndrome othese conditions are also associated with genetic variants ofADAMTSandADAMTSLgenes, suggesting a role for fibrillin-ADAMTS and ADAMTS-like protein interactions ...