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Síndrome de la aracnodactilia contractural: estudio de un caso esporádico y revisión de la literaturaCongenital Contractural Arachnodactyly
(Universidad de Antioquia, Facultad de medicinaMedellín, Colombia, 2021)
Iris coloboma, blepharophimosis, arachnodactyly, joint contractures: Beals syndrome and Van den Ende-Gupta syndrome phenotypic similarities
(LIPPINCOTT WILLIAMS & WILKINS, 2009)
Metacarpophalangeal pattern profile in Marfan syndrome and Marfan-like patients
(1997-10-17)
Marfan syndrome (MFS) is an autosomal dominant trait due to mutations in the fibrillin gene (FBN1). The MFS expressivity is variable, and its diagnosis relies completely on clinical criteria. Atypical cases and Marfan- ...
Metacarpophalangeal pattern profile in Marfan syndrome and Marfan-like patients
(1997-10-17)
Marfan syndrome (MFS) is an autosomal dominant trait due to mutations in the fibrillin gene (FBN1). The MFS expressivity is variable, and its diagnosis relies completely on clinical criteria. Atypical cases and Marfan- ...
Avaliação antropométrica e músculo esquelética de pacientes com síndrome de MarfanAnthropometric and musculoskeletal assessment of patients with Marfan syndrome
(Associação Brasileira de Pesquisa e Pós-Graduação em Fisioterapia, 2012)
Avaliação antropométrica e musculoesquelética de pacientes com síndrome de Marfan
(Associação Brasileira de Pesquisa e Pós-Graduação em Fisioterapia, 2011)
CONTEXTUALIZAÇÃO: A Síndrome de Marfan (SM) é uma doença autossômica dominante do tecido conjuntivo que envolve os sistemas ocular, cardiovascular e musculoesquelético, causada por mutações no gene da fibrilina1, gerando ...
Avaliação antropométrica e musculoesquelética de pacientes com síndrome de Marfan
(Associação Brasileira de Pesquisa e Pós-Graduação em Fisioterapia, 2011-08-01)
BACKGROUND: Marfan syndrome (MS) is an autosomic dominant condition of the connective tissue that involves the ocular, cardiovascular and musculoskeletal systems. MS is caused by mutations in the fibrillin-1 gene, leading ...
Metacarpophalangeal pattern profile in Marfan syndrome and Marfan-like patients
(Wiley-lissHobokenEUA, 1997)