{"title":"一例无脑积水伴peho样畸形的患者","authors":"Cyril Goizet , Caroline Espil-Taris , Marie Husson , Jean-François Chateil , Jean-Michel Pedespan , Didier Lacombe","doi":"10.1016/S0003-3995(03)00003-0","DOIUrl":null,"url":null,"abstract":"<div><p>Progressive encephalopathy with Edema, Hypsarrhythmia, and Optic atrophy (PEHO syndrome) is a rare recessive autosomal neurodegenerative condition essentially described in Finland. The term PEHO-like syndrome has been proposed for patients who share clinical features of PEHO syndrome but lack the cerebellar atrophy, one of its major diagnostic criteria. We describe a patient presenting with hypoxic-ischaemic encephalopathy and PEHO-like syndrome features.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2003-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S0003-3995(03)00003-0","citationCount":"8","resultStr":"{\"title\":\"A patient with hydranencephaly and PEHO-like dysmorphic features\",\"authors\":\"Cyril Goizet , Caroline Espil-Taris , Marie Husson , Jean-François Chateil , Jean-Michel Pedespan , Didier Lacombe\",\"doi\":\"10.1016/S0003-3995(03)00003-0\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>Progressive encephalopathy with Edema, Hypsarrhythmia, and Optic atrophy (PEHO syndrome) is a rare recessive autosomal neurodegenerative condition essentially described in Finland. The term PEHO-like syndrome has been proposed for patients who share clinical features of PEHO syndrome but lack the cerebellar atrophy, one of its major diagnostic criteria. We describe a patient presenting with hypoxic-ischaemic encephalopathy and PEHO-like syndrome features.</p></div>\",\"PeriodicalId\":100089,\"journal\":{\"name\":\"Annales de Génétique\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2003-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1016/S0003-3995(03)00003-0\",\"citationCount\":\"8\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annales de Génétique\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0003399503000030\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annales de Génétique","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0003399503000030","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
A patient with hydranencephaly and PEHO-like dysmorphic features
Progressive encephalopathy with Edema, Hypsarrhythmia, and Optic atrophy (PEHO syndrome) is a rare recessive autosomal neurodegenerative condition essentially described in Finland. The term PEHO-like syndrome has been proposed for patients who share clinical features of PEHO syndrome but lack the cerebellar atrophy, one of its major diagnostic criteria. We describe a patient presenting with hypoxic-ischaemic encephalopathy and PEHO-like syndrome features.
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