{"title":"只是身材不矮而已。","authors":"Hassan Sreenivasamurthy Rajani, Doddaiah Narayanappa, Deepa Bhat, Aditya Batra, Sathya Narayana Prashanth","doi":"10.24911/SJP.106-1668092616","DOIUrl":null,"url":null,"abstract":"<p><p>Russell-Silver syndrome, also called asymmetric dwarf dysgenesis syndrome is an uncommon genetic disorder presenting with low birth weight, failure to thrive and growth retardation (short stature), developmental delay, facial dysmorphism and hemihypertrophy. The estimated incidence is between 1 case in 3,000 to 1 case in 100,000. We are hereby reporting one such case of postnatal growth retardation with facial dysmorphism and several other features of Russell-Silver syndrome and confirmed by genetic analysis.</p>","PeriodicalId":74884,"journal":{"name":"Sudanese journal of paediatrics","volume":"23 2","pages":"239-242"},"PeriodicalIF":0.0000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10876281/pdf/","citationCount":"0","resultStr":"{\"title\":\"It is just not short stature.\",\"authors\":\"Hassan Sreenivasamurthy Rajani, Doddaiah Narayanappa, Deepa Bhat, Aditya Batra, Sathya Narayana Prashanth\",\"doi\":\"10.24911/SJP.106-1668092616\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Russell-Silver syndrome, also called asymmetric dwarf dysgenesis syndrome is an uncommon genetic disorder presenting with low birth weight, failure to thrive and growth retardation (short stature), developmental delay, facial dysmorphism and hemihypertrophy. The estimated incidence is between 1 case in 3,000 to 1 case in 100,000. We are hereby reporting one such case of postnatal growth retardation with facial dysmorphism and several other features of Russell-Silver syndrome and confirmed by genetic analysis.</p>\",\"PeriodicalId\":74884,\"journal\":{\"name\":\"Sudanese journal of paediatrics\",\"volume\":\"23 2\",\"pages\":\"239-242\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10876281/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Sudanese journal of paediatrics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.24911/SJP.106-1668092616\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Sudanese journal of paediatrics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.24911/SJP.106-1668092616","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Russell-Silver syndrome, also called asymmetric dwarf dysgenesis syndrome is an uncommon genetic disorder presenting with low birth weight, failure to thrive and growth retardation (short stature), developmental delay, facial dysmorphism and hemihypertrophy. The estimated incidence is between 1 case in 3,000 to 1 case in 100,000. We are hereby reporting one such case of postnatal growth retardation with facial dysmorphism and several other features of Russell-Silver syndrome and confirmed by genetic analysis.
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
