Ricarte-Bratti Juan Pablo, Martínez Layla Florencia, Bono Julio Oscar Emilio, Córdoba Ignacio, Córdoba Roque Augusto
Sanatorio Allende.
Rev Fac Cien Med Univ Nac Cordoba. 2022 Dec 21;79(4):387-390. doi: 10.31053/1853.0605.v79.n4.30846.
Marfan syndrome is an autosomal dominant hereditary disease that compromises various systems that usually require a multidisciplinary approach. The cause of Marfan syndrome is unknown, but recent genetic studies have related this disease to an extracellular microfibrillar defect located on chromosome 15q15-q21.3. Due to the severity of the signs and symptoms the diagnosis is usually at a very young age. We report a patient with extreme Marfan syndrome with all the particulars that this syndrome offers.
马凡综合征是一种常染色体显性遗传性疾病,会累及多个系统,通常需要多学科方法进行治疗。马凡综合征的病因尚不清楚,但最近的基因研究已将该疾病与位于15号染色体q15-q21.3区域的细胞外微纤维缺陷联系起来。由于体征和症状严重,通常在患者非常年轻时就能确诊。我们报告了一例患有极重度马凡综合征的患者,并介绍了该综合征的所有细节。