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[马方综合征]

[Marfan's syndrome].

作者信息

Torres Portillo A, Lezama Hernández E, Maldonado Rodríguez R

出版信息

Bol Med Hosp Infant Mex. 1979 Mar-Apr;36(2):247-54.

PMID:758194
Abstract

A family with Marfan's syndrome is reported showing as outstanding features, demonstration of the hereditary character of the entity through the genealogical tree. The classical clinical characteristics of the disease are: long face, arachnodactyly, decreased subcutaneous tissue, muscular hypoplasia, somatometric values above normal percentiles for Mexicans, weight and perimeters of arm and leg showing low mass and height, upper and lower segments above percentil 50 and ocular disorders like bilateral ectopia lentis, spherical and small lens, iridodonesis and myopia.

摘要

报道了一个患有马凡氏综合征的家族,其突出特征是通过系谱树证明了该病症的遗传特性。该疾病的典型临床特征为:长脸、蜘蛛指(趾)、皮下组织减少、肌肉发育不全、墨西哥人的体格测量值高于正常百分位数、手臂和腿部的重量和周长显示质量低且身高较高、上下身比例高于第50百分位数,以及眼部疾病,如双侧晶状体异位、晶状体球形且小、虹膜震颤和近视。

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