Hidalgo-Bravo Alberto, Acosta-Nieto Maria L, Normendez-Martinez Monica I, Rodriguez-Gonzalez Nubia F, Paz-Gomez Francisco, Valdes-Flores Margarita, Kramis-Hollands Mirelle
Hospital Regional de Alta Especialidad del Bajio, San Carlos la Roncha, Leon, Guanajuato, Mexico.
Department of Genetics, Instituto Nacional de Rehabilitación, Mexico City, Mexico.
Am J Med Genet A. 2016 Feb;170A(2):446-451. doi: 10.1002/ajmg.a.37423. Epub 2015 Oct 5.
Dermochondrocorneal Dystrophy (OMIM 221800) is a very rare disease first described by Francois in 1949. It is characterized by the appearance of skin nodules, osteochondral deformities, and corneal opacities during childhood. Only a few cases have been reported. There is uncertainty about the inheritance pattern and no gene or genes have been associated to this disease. We report a patient from Mexican mestizo origin with the classic manifestations of Dermochondrocorneal Dystrophy. We perform a multidisciplinary assessment in order to contribute to the knowledge of the clinical presentation of this uncommon condition. Among the few documented patients, this is the third patient of Mexican ancestry reported with this syndrome.
皮肤软骨角膜营养不良（OMIM 221800）是一种非常罕见的疾病，由弗朗索瓦于1949年首次描述。其特征是在儿童期出现皮肤结节、骨软骨畸形和角膜混浊。仅报告了少数病例。关于遗传模式存在不确定性，且尚无基因与该疾病相关联。我们报告了一名来自墨西哥混血儿的患者，具有皮肤软骨角膜营养不良的典型表现。我们进行了多学科评估，以增进对这种罕见疾病临床表现的了解。在少数有记录的患者中，这是第三例报告患有该综合征的墨西哥血统患者。
