MARFAN SYNDROME IN A FAMILY IN THE INTERIOR OF MINAS GERAIS CASE REPORT AND REVIEW
Marfan Syndrome (SFM) is a rare condition of the connective tissue, of autosomal dominant origin, intra and interfamilial variable expressivity, pleitropy and does not show predilection for gender, ethnicity, or geographic distribution. It is a multisystem disease, whose main phenotypic manifestations involve the skeletal, cardiovascular and ocular systems. The diagnosis of FMS can be performed clinically through the Ghent nosology criteria or by molecular biology examination to identify mutations in the fibrillin-1 gene. In this report, we describe the clinical conditions of patients from the same family, all of whom have the syndrome. The objective is to describe the genetic dominance of the disease, as well as the main symptoms and repercussions.
MARFAN SYNDROME IN A FAMILY IN THE INTERIOR OF MINAS GERAIS CASE REPORT AND REVIEW
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DOI: 10.22533/at.ed.1593702304091
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Palavras-chave: Marfan Syndrome; Ghent Nosology
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Keywords: Marfan Syndrome; Ghent Nosology
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Abstract: Marfan Syndrome (SFM) is a rare condition of the connective tissue, of autosomal dominant origin, intra and interfamilial variable expressivity, pleitropy and does not show predilection for gender, ethnicity, or geographic distribution. It is a multisystem disease, whose main phenotypic manifestations involve the skeletal, cardiovascular and ocular systems. The diagnosis of FMS can be performed clinically through the Ghent nosology criteria or by molecular biology examination to identify mutations in the fibrillin-1 gene. In this report, we describe the clinical conditions of patients from the same family, all of whom have the syndrome. The objective is to describe the genetic dominance of the disease, as well as the main symptoms and repercussions.
- Bianca Victória Resende E Almeida
- Giulia Manuella Resende e Almeida
- Adriana Vieira Drigo
- Gabrielle Carolline Ribeiro Rocha
- Ludimila Mendonça Brenner
- Isadora Marques Andrade
