[Ellis-Van Creveld syndrome].

F. Pérez Alvarez, S. Martínez Santana, C. Rodríguez
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Abstract

Ellis-van Creveld syndrome is an inherited disorder of bone growth that results in very short stature (dwarfism). People with this condition have particularly short forearms and lower legs and a narrow chest with short ribs. Ellis-van Creveld syndrome is also characterized by the presence of extra fingers and toes (polydactyly), malformed fingernails and toenails, and dental abnormalities. More than half of affected individuals are born with a heart defect, which can cause serious or life-threatening health problems.
Ellis-van Creveld综合征是一种遗传性骨骼生长障碍,导致身材非常矮小(侏儒症)。患有这种疾病的人前臂和小腿特别短,胸部狭窄,肋骨短。Ellis-van Creveld综合征的另一个特征是手指和脚趾(多指畸形)、指甲和脚趾甲畸形以及牙齿异常。超过一半的患者生来就有心脏缺陷,这可能导致严重或危及生命的健康问题。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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