Article
How to Distinguish Marfan Syndrome from Marfanoid Habitus in a Physical Examination-Comparison of External Features in Patients with Marfan Syndrome and Marfanoid Habitus.
International journal of environmental research and public health - 11 Jan 2022
Wozniak-Mielczarek Lidia, Osowicka Michalina, Radtke-Lysek Alicja, Drezek-Nojowicz Magda, Gilis-Malinowska Natasza, Sabiniewicz Anna, Mielczarek Maksymilian, Sabiniewicz Robert
Abstract excerpt
Marfan Syndrome (MFS) is a systemic disorder caused by mutations in fibrillin-1. The most common cause of mortality in MFS is dissection and rupture of the aorta. Due to a highly variable and age-dependent clinical spectrum, the diagnosis of MFS still remains sophisticated. The aim of the study was to determine if there exist phenotypic features that can play the role of "red flags" in cases of MFS suspicion. The...
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