关键词: Cardiomegaly, Polydactyly, Ellis-van Creveld Syndrome.

Mesh : Female Child Humans Ellis-Van Creveld Syndrome / complications diagnosis Polydactyly / diagnosis Heart Defects, Congenital Fingers

来  源:   DOI:10.47391/JPMA.7049

Abstract:
Ellis-van Creveld syndrome (EVC), also known as chondroectodermal dysplasia, is a rare entity. It most commonly affects the tubular bones leading to dwarfism and a long trunk with ossification defects. Other presentations are wide hands and feet, dysplastic nails, thin hair, and cardiac malformations. An eight-year-old female patient presented to our tertiary care centre with complaints of short stature, abnormal dentition, and fatigue. The child\'s parents were first-degree relatives. On radiological imaging, it was revealed that the patient had postaxial polydactyly, short stature, and genu valgum deformity along with mild cardiomegaly. All these features were indicative of Ellis-van Creveld syndrome. EVC is a rare clinical syndrome with a distinctive clinical presentation. It requires comprehensive radiological investigations and the management is best done with a multidisciplinary approach.
摘要:
埃利斯-范·克里维尔德综合征(EVC),也被称为软骨外胚层发育不良,是一个罕见的实体。它最常见的影响管状骨,导致侏儒症和长躯干骨化缺陷。其他演示文稿是宽的手和脚,发育不良的指甲,稀疏的头发,心脏畸形.一名八岁女病人因身材矮小而向我们的三级护理中心提出投诉,牙列异常,和疲劳。孩子的父母是一级亲属。关于放射成像,据透露,患者患有后轴多指症,身材矮小,并伴有轻度心脏肥大。所有这些特征都表明Ellis-vanCreveld综合征。EVC是一种罕见的临床综合征,具有独特的临床表现。它需要全面的放射学调查,最好采用多学科方法进行管理。
公众号