Amit Vatkar, Nisha Dolas, K. Kanmani, Vijay Kamale
{"title":"Bainbridge-Roper syndrome: A rare case of developmental delay","authors":"Amit Vatkar, Nisha Dolas, K. Kanmani, Vijay Kamale","doi":"10.33545/26643685.2021.v4.i1b.135","DOIUrl":null,"url":null,"abstract":"ASXL3 mutations were first identified in 2013 by Bainbridge et al . as a cause of syndromic intellectual disability in four children with similar phenotypes using whole-exome sequencing. The clinical features – postulated by Bainbridge et al . were developmental delay, severe feeding difficulties, failure to thrive and neurological abnormalities. To date, a total of nine individuals with BRPS have been published in the literature in four reports (Bainbridge et al ., Dinwiddie et al , Srivastava et al . and Hori et al .). In this report, we describe an uncertain variant present in Exon 11 of ASXL3(+) heterozygous zygosity in a female child with clinical features: truncal muscular hypotonia with significant motor delay, profound speech impairment, intellectual disability and a characteristic dysmorphic facies phenotype (open mouth, full lips, depressed nasal bridge, metopic prominence, microcephaly (45.5.cm), with camptodactyly and dysplastic fingers). Hence, we are reporting a rare case of developmental delay.","PeriodicalId":144032,"journal":{"name":"International Journal of Paediatrics and Geriatrics","volume":"42 19","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Journal of Paediatrics and Geriatrics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.33545/26643685.2021.v4.i1b.135","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
ASXL3 mutations were first identified in 2013 by Bainbridge et al . as a cause of syndromic intellectual disability in four children with similar phenotypes using whole-exome sequencing. The clinical features – postulated by Bainbridge et al . were developmental delay, severe feeding difficulties, failure to thrive and neurological abnormalities. To date, a total of nine individuals with BRPS have been published in the literature in four reports (Bainbridge et al ., Dinwiddie et al , Srivastava et al . and Hori et al .). In this report, we describe an uncertain variant present in Exon 11 of ASXL3(+) heterozygous zygosity in a female child with clinical features: truncal muscular hypotonia with significant motor delay, profound speech impairment, intellectual disability and a characteristic dysmorphic facies phenotype (open mouth, full lips, depressed nasal bridge, metopic prominence, microcephaly (45.5.cm), with camptodactyly and dysplastic fingers). Hence, we are reporting a rare case of developmental delay.