{"title":"A case report describing insights into the imaging of Apert syndrome","authors":"Diksha Goyal, Poonam Sherwani","doi":"10.1016/j.rare.2024.100023","DOIUrl":null,"url":null,"abstract":"<div><p>Apert syndrome is a rare congenital autosomal dominant acrocephalosyndactyly type I syndrome which manifests in the form of various craniofacial, skeletal, and visceral anomalies. The present case reports this rare entity in a 15-month-old who presented with multiple craniofacial abnormalities, craniosynostosis and bilateral symmetrical syndactyly, and after thorough evaluation was diagnosed as a case of Apert Syndrome.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100023"},"PeriodicalIF":0.0000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000061/pdfft?md5=cfaf0d1cba55815ec61975143a0c742a&pid=1-s2.0-S2950008724000061-main.pdf","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Rare","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2950008724000061","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Apert syndrome is a rare congenital autosomal dominant acrocephalosyndactyly type I syndrome which manifests in the form of various craniofacial, skeletal, and visceral anomalies. The present case reports this rare entity in a 15-month-old who presented with multiple craniofacial abnormalities, craniosynostosis and bilateral symmetrical syndactyly, and after thorough evaluation was diagnosed as a case of Apert Syndrome.