Results 121 to 130 of about 30,022 (221)
Revista Ciências em Saúde, 2014 Introdução: A síndrome de Marfan (SMF) é uma doença do tecido conjuntivo, com herança autossômica dominante com incidência de 2-3 para cada 10.000 indivíduos.Casuística: Relataremos um caso de um paciente portador de Síndrome de Marfan que foi ...
Eduardo Tadeu Ramos Almeida +2 more
doaj +1 more source
Gastrointestinal Symptoms in Marfan Syndrome and Hypermobile Ehlers-Danlos Syndrome. [PDF]
, 2018 Objective: Marfan syndrome (MS) is a multisystem disorder caused by a mutation in FBN1 gene. It shares some phenotypic features with hypermobile Ehlers-Danlos syndrome (EDS) such as joint hypermobility.
Child, A +5 more
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A patient with Marfan syndrome in a general practitioner’s office
Pediatria i Medycyna Rodzinna, 2015 Marfan syndrome is a disorder of the connective tissue (fibrillins and elastins). It is an autosomal dominant disease associated with a defect of chromosome 15 which encodes fibrillin-1.
Magdalena Czerżyńska +3 more
doaj +1 more source
Orthognathic Surgical Outcomes in Patients With and Without Craniofacial Anomalies [PDF]
, 2018 Purpose The objective of this study is to examine hospitalization outcomes after orthognathic surgery. This study tests the hypothesis that patients with craniofacial anomalies have higher billed hospital charges, longer lengths of stay, and increased ...
Allareddy, Veerasathpurush +3 more
core +1 more source
A c.3037G > A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype. [PDF]
, 2017 Marfan syndrome is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, mostly caused by mutations in the FBN1 gene, which is located on chromosome 15q21.1 and encoding fibrillin 1.
Bellacchio, Emanuele +11 more
core
Pilot study exploring artificial intelligence for facial-image-based diagnosis of Marfan syndrome
HeliyonBackground: Marfan Syndrome (MFS), a genetic disorder impacting connective tissue, manifests in a wide array of phenotypes which can affect numerous bodily systems, especially the thoracic aorta.
Danny Saksenberg +4 more
doaj +1 more source
Marfan syndrome. Report of a patient
Acta Médica del Centro, 2015 Marfan syndrome is a congenital hereditary disease (sporadic in 15-30% of cases) of connective tissue, dominant autosomal with complete penetrance, with prevalence estimated at one per 5 000 people and incidence of one per 10 000 births without racial or
Luis Alberto Santos Pérez +2 more
doaj