埃利斯-范克里夫德综合征

Ellis-van Creveld.

作者信息

Jayaraj Dhandabani, Maheswaran Thangadurai, Suresh Ramamurthy, Ganapathy Nalliappan

机构信息

Department of Pediatric and Preventive Dentistry, Indira Gandhi Institute of Dental Sciences, Sri Balaji Vidyapeeth University, Pillaiyarkuppam, Puducherry, India.

出版信息

J Pharm Bioallied Sci. 2012 Aug;4(Suppl 2):S153-6. doi: 10.4103/0975-7406.100257.

DOI:10.4103/0975-7406.100257

PMID:23066239

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3467917/

Abstract

Ellis-van Creveld (EVC) syndrome is an autosomal recessive disorder that is also known as chondro-ectodermal dysplasia. The common manifestations of this syndrome are short ribs, postaxial polydactyly, growth retardation, and ectodermal and cardiac defects. The present case report is about an 8-year-old boy who had the features of bilateral hexadactyly, knocked knees, cardiac problems, congenital absence of incisors, fused upper and lower labial frenulum, and mulberry molars.

摘要

埃利斯-范克里维尔德（EVC）综合征是一种常染色体隐性疾病，也被称为软骨外胚层发育不良。该综合征的常见表现为肋骨短小、轴后多指畸形、生长发育迟缓以及外胚层和心脏缺陷。本病例报告讲述的是一名8岁男孩，他具有双侧多指畸形、膝外翻、心脏问题、先天性门牙缺失、上下唇系带融合以及桑葚状磨牙等特征。