{"title":"婴儿骨质疏松症伴发育迟缓、器官肥大和眼球游走:病例报告","authors":"Ashwini Prithvi, Dhrithi Kodethoor, Sushma K, Sanjiv Lewin","doi":"10.1080/20469047.2024.2335423","DOIUrl":null,"url":null,"abstract":"Osteopetrosis encompasses rare inherited metabolic bone disorders with defect in the osteoclast activity. Severe forms of presentation such as malignant infantile osteopetrosis are seen in infants ...","PeriodicalId":19731,"journal":{"name":"Paediatrics and International Child Health","volume":"206 1","pages":""},"PeriodicalIF":1.4000,"publicationDate":"2024-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Infantile osteopetrosis with delayed development, organomegaly and wandering eyes: case report\",\"authors\":\"Ashwini Prithvi, Dhrithi Kodethoor, Sushma K, Sanjiv Lewin\",\"doi\":\"10.1080/20469047.2024.2335423\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Osteopetrosis encompasses rare inherited metabolic bone disorders with defect in the osteoclast activity. Severe forms of presentation such as malignant infantile osteopetrosis are seen in infants ...\",\"PeriodicalId\":19731,\"journal\":{\"name\":\"Paediatrics and International Child Health\",\"volume\":\"206 1\",\"pages\":\"\"},\"PeriodicalIF\":1.4000,\"publicationDate\":\"2024-04-05\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Paediatrics and International Child Health\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1080/20469047.2024.2335423\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Paediatrics and International Child Health","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/20469047.2024.2335423","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"PEDIATRICS","Score":null,"Total":0}
Infantile osteopetrosis with delayed development, organomegaly and wandering eyes: case report
Osteopetrosis encompasses rare inherited metabolic bone disorders with defect in the osteoclast activity. Severe forms of presentation such as malignant infantile osteopetrosis are seen in infants ...
期刊介绍:
Paediatrics and International Child Health is an international forum for all aspects of paediatrics and child health in developing and low-income countries. The international, peer-reviewed papers cover a wide range of diseases in childhood and examine the social and cultural settings in which they occur. Although the main aim is to enable authors in developing and low-income countries to publish internationally, it also accepts relevant papers from industrialised countries. The journal is a key publication for all with an interest in paediatric health in low-resource settings.