Results 121 to 130 of about 3,631,363 (269)

Bilateral ectopia lentis with isolated lens coloboma in Marfan syndrome

, 2016
A rare case of bilateral ectopia lentis with isolated lens coloboma in Marfan syndrome is reported. A 21-year-old female presented with decreased vision in both eyes. Her unaided visual acuity was 20/200 and 20/400 in the right and left eye, respectively,
Yadav, Reena, Gupta, Sharad, Sahu, Sabin, Raj Puri, L, Raj Puri, Lila, Gupta, S, Yadav, R, Sahu, S   +7 more
core   +1 more source

Biometric and structural ocular manifestations of Marfan syndrome

PLoS ONE, 2017
Background To study biometric and structural ocular manifestations of Marfan syndrome (MFS). Methods Observational, retrospective, comparative cohort study in a tertiary referral center on 285 MFS patients and 267 controls.
P. Gehle, Barbara Goergen, D. Pilger, P. Ruokonen, P. N. Robinson, D. Salchow   +5 more
semanticscholar   +1 more source

Challenges in the diagnosis of Marfan syndrome

, 2006
Marfan syndrome (MFS) is a multisystem disorder of connective tissue that is inherited in an autosomal dominant fashion, and results from mutations in the FBN1 gene on chromosome 15.
West, MJ, Stark, D, Summers, KM, West, JA, McGill, JJ, Peterson, MM   +5 more
core  

Ten‐year reinvestigation of ocular manifestations in Marfan syndrome

Clinical and Experimental Ophthalmology, 2018
Long‐term follow‐up of Marfan syndrome (MFS) patients.
G. Sandvik, T. T. Vanem, S. Rand-Hendriksen, Symira Cholidis, Marit Sæthre, L. Drolsum   +5 more
semanticscholar   +1 more source

MARFAN SYNDROME PRESENTING WITH BILATERAL RETINAL DETACHMENT

National Journal of Medical Research, 2014
Marfan syndrome is an autosomal dominant systemic disorder of the connective tissue. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessels. Eye involvement may be in the form of retinal
Subrata Chakrabarti, Koushik Pan
doaj  

Marfan syndrome. [PDF]

Journal of Medical Genetics, 1997
de Paepe, A., Hennekam, R. C.
openaire   +2 more sources

Therapeutic Opportunities of Marfan Syndrome: Current Perspectives [PDF]

Xiaoying Feng,1,* Chao Qu,2,* Ping Jia,3,* Ding Ding Zhang4 1College of Medical Technology, Chengdu University of Traditional Chinese Medicine, Chengdu, People’s Republic of China; 2Department of Ophthalmology, Sichuan Provincial ...
Qu C, Jia P, Zhang DD, Feng X
core  

Linkage analysis in Marfan syndrome

, 1990
We have analysed 40 marker loci on 13 chromosomes for linkage with Marfan syndrome. None of the loci was linked to the Marfan syndrome locus at theta = 0.00. This study provides a basis for an exclusion map and for further collaboration in mapping of the
Blanton, S H, Tsipouras, P, Sarfarazi, M, Hyde, C A, Sottile, T R, Schwartz, R C, Hudgins, L   +6 more
core   +1 more source

Sonographic prenatal diagnosis of congenital Marfan syndrome [PDF]

, 2012
Congenital Marfan syndrome is a rare and severe disease of the newborn, causing devastating and often fatal effects on the cardiovascular, pulmonary, and musculoskeletal systems.
Bender, Rachel M, Rachel M Bender, Hwang, Joseph, Joseph Hwang   +3 more
core   +1 more source

Pregnancy and Marfan syndrome.

Annals of Cardiothoracic Surgery, 2017
Pregnancy in women with Marfan syndrome (MFS) presents challenges to the clinician and the patient due to the increased incidence of maternal complications and involvement of the fetus, and deserves special consideration.
S. Goland, U. Elkayam
semanticscholar   +1 more source