{"title":"一份描述阿博特综合征影像学见解的病例报告","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":"{\"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}","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
摘要
阿博特综合征是一种罕见的先天性常染色体显性颅脑发育不全 I 型综合征，表现为各种颅面、骨骼和内脏畸形。本病例报告的患者是一名 15 个月大的婴儿，患有多种颅面畸形、颅骨发育不良和双侧对称性联合actyly，经全面评估后被诊断为阿博特综合征。
A case report describing insights into the imaging of Apert syndrome
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.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
