Results 91 to 100 of about 19,820 (226)
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 +7 more
core +1 more source
Clinical Case Reports, Volume 14, Issue 7, July 2026.Multifocal aortic aneurysmal dilatation as evidenced by CT Angiography chest‐abdomen‐pelvis of the ascending aorta (A), aortic arch (B), and suprarenal abdominal aorta (C), measuring 6.0 × 6.0, 4.5 × 4.5, and 4.1 × 3.7 cm, respectively. ABSTRACT We describe the case of a 44‐year‐old female with a history significant for only hypertension who presented ...
J. Curran Henson +4 more
wiley +1 more source
HeliyonIntroduction: Marfan syndrome is a rare disease in which different metabolic pathways and immune mediators such as transforming growth factor β1, interleukins and metalloproteinases participate.
María Elena Soto +8 more
doaj +1 more source
Unusual presentation of adult Marfan syndrome as a complex diaphragmatic hiatus hernia
Asian Journal of Surgery, 2017 Marfan syndrome is multisystem connective tissue disorder that primarily involves the skeletal, cardiovascular, and ocular systems. The gastrointestinal complications in Marfan syndrome are rare, with only a few case reports described in the literature ...
Shruti Thakur +4 more
doaj +1 more source
Delay in Diagnosis of Classical Homocystinuria
JIMD Reports, Volume 67, Issue 4, July 2026.ABSTRACT Classical homocystinuria (HCU) is an autosomal recessive disorder of methionine metabolism with a wide spectrum of severity and clinical presentation. Timely diagnosis facilitates prompt initiation of treatment, which reduces complications. Our aim was to identify the nature of the first clinical manifestation and time to subsequent diagnosis ...
Subadra Wanninayake +5 more
wiley +1 more source
Public Health Genomics, 2004 <i>Objectives:</i> Marfan syndrome (MFS) is a relatively frequent systemic connective tissue disorder with an important physical morbidity and mortality. The influences of MFS on physical problems, perception of severity, and impact on the quality of life and psychosocial well-being have been studied only limitedly.
Sylvia, De Bie +4 more
openaire +2 more sources
Pre‐Sport Cardiac Evaluation in Children: Detection of Risks Other Than Sudden Cardiac Death
Annals of Noninvasive Electrocardiology, Volume 31, Issue 4, July 2026.In children who want to play sports, is a cardiac evaluation necessary only for sudden cardiac death? ABSTRACT Objective Sudden deaths may occur in children and adolescents due to unexpected cardiac problems during sports. This study aimed to screen for abnormalities that may lead to future morbidity in addition to the risk of sudden death and to ...
Mehmet Öncül, Abdulgani Gülyüz
wiley +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 +3 more
core +1 more source
Veterinary Ophthalmology, Volume 29, Issue 4, July 2026.ABSTRACT Objective Describe the clinical features, disease progression, and outcomes of presumed primary lens instability (PLI) in cats, and to assess its association with glaucoma. Animals Studied Thirty‐four cats (68 eyes). Procedures Medical records were reviewed for signalment, clinical history, ophthalmic findings, and treatment.
Havi Sarfaty +5 more
wiley +1 more source
Marfan Syndrome in Palaeopathology: A review
, 2023 In this paper we offer an orthopaedic review of Marfan syndrome in antiquity highlighting the intrinsic difficulties diagnosing it as highlighted by two publications available in the palaeopathological literature. We propose a best diagnostic approach to
Galassi F. M. +6 more
core +1 more source