Balogun Modupe, Balogun Bolanle, A. Bola, Popoola Ruqayat
{"title":"Apert Syndrome in Lagos – a Case Report and Literature Review","authors":"Balogun Modupe, Balogun Bolanle, A. Bola, Popoola Ruqayat","doi":"10.4314/NMP.V63I1-2","DOIUrl":null,"url":null,"abstract":"Apert Syndrome is a rare autosomal dominant disorder characterized by premature fusion of sutures of bones of the skull (Craniosynostosis), fingers and toes (Syndactyly) to different degree. Though it is rare, it is pertinent for clinicians to know about this condition so as to improve their ability to manage it and to note that management is multidisciplinary. We present a case of Apert Syndrome in a one month old Nigerian female, and one of a set of twins that presented with proptosis, hypertelorism, high arched palate and fusion of bones of fingers and toes. Keyword: Apert syndrome, craniosynostosis, proptosis, hypertelorism Nigerian Medical Practitioner Vol. 63 No 1-2, 2013","PeriodicalId":85759,"journal":{"name":"The Nigerian medical practitioner","volume":"48 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2013-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"The Nigerian medical practitioner","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4314/NMP.V63I1-2","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 autosomal dominant disorder characterized by premature fusion of sutures of bones of the skull (Craniosynostosis), fingers and toes (Syndactyly) to different degree. Though it is rare, it is pertinent for clinicians to know about this condition so as to improve their ability to manage it and to note that management is multidisciplinary. We present a case of Apert Syndrome in a one month old Nigerian female, and one of a set of twins that presented with proptosis, hypertelorism, high arched palate and fusion of bones of fingers and toes. Keyword: Apert syndrome, craniosynostosis, proptosis, hypertelorism Nigerian Medical Practitioner Vol. 63 No 1-2, 2013