导航复杂性:一个埃利斯-范·克雷费尔德综合征的儿科病例。

IF 1 Q4 PRIMARY HEALTH CARE
Mridula Goswami, Riya Marie Johnson, Rimshheanam
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引用次数: 0

摘要

Ellis-van Creveld (EVC)综合征是一种罕见的常染色体隐性遗传病,以先天性异常为特征,如外胚层发育不良、轴后多指畸形、软骨发育不良和先天性心脏缺陷。由于其多样化的口腔表现和多学科护理的需要,该综合征在儿科牙科中提出了独特的挑战。本病例报告提出一12岁男性EVC综合征,表现为双侧多指畸形,综合征性面部外观和先天性心脏缺陷。临床及影像学检查发现数颗牙齿缺失及畸形。制定了包括可摘局部义齿修复在内的综合治疗方案。定期随访以评估整体口腔健康状况。多学科管理,包括牙科、心脏和心理护理,对优化患者预后至关重要。早期诊断和治疗对于改善口腔健康、功能和生活质量至关重要,从而增强患病儿童的心理健康和自尊。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Navigating complexities: A pediatric case of Ellis-van Creveld syndrome.

Navigating complexities: A pediatric case of Ellis-van Creveld syndrome.

Navigating complexities: A pediatric case of Ellis-van Creveld syndrome.

Navigating complexities: A pediatric case of Ellis-van Creveld syndrome.

Ellis-van Creveld (EVC) syndrome is a rare autosomal recessive disorder characterized by congenital abnormalities such as ectodermal dysplasia, post-axial polydactyly, chondrodysplasia, and congenital heart defects. The syndrome presents unique challenges in pediatric dentistry due to its diverse oral manifestations and the need for multidisciplinary care. This case report presents a 12-year-old male with EVC syndrome presented with bilateral polydactyly, a syndromic facial appearance, and congenital heart defects. Clinical and radiographic evaluation revealed several missing and malformed teeth. A comprehensive treatment plan was formulated which included prosthetic rehabilitation with removable partial dentures. Regular follow-ups were conducted to assess overall oral health. Multidisciplinary management, including dental, cardiac, and psychological care, is crucial for optimizing patient outcomes. Early diagnosis and treatment are crucial for improving oral health, function, and quality of life, thereby enhancing the psychological well-being and self-esteem of affected children.

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来源期刊
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7.10%
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审稿时长
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