{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T16:22:18Z","timestamp":1787502138124,"version":"build-2736575974"},"reference-count":21,"publisher":"Necmettin Erbakan University Press","issue":"01","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>This retrospective study was performed on 208 patients with Down syndrome (DS) from heterogeneous ethnic population and admitted under Genetics Metabolic Unit. The aim of the study was to look for phenotypic variability and associated complications in children and adolescents with DS. The average age of the evaluated DS patients was 34 months. Cardiac anomalies were found in 128 (62%) of the 208 cases. Among the cardiac disorders, atrial septal defects accounted for 30% of cases. Other complications observed were hypothyroidism and developmental delay in around 31% cases and neonatal cholestasis in 14% cases. Also, we report two cases with Moya-Moya disease and one case with atlanto-axial dislocation.<\/jats:p>","DOI":"10.1055\/s-0041-1732475","type":"journal-article","created":{"date-parts":[[2021,7,26]],"date-time":"2021-07-26T19:09:26Z","timestamp":1627326566000},"page":"053-057","source":"Crossref","is-referenced-by-count":6,"title":["Clinical Profile of Indian Children with Down Syndrome"],"prefix":"10.53391","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7375-9892","authenticated-orcid":false,"given":"Inusha","family":"Panigrahi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Genetic-Metabolic Unit, Advanced Pediatric Center, Post Graduate Institute of Medical Education & Research, Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yogita","family":"Bhatt","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Genetic-Metabolic Unit, Advanced Pediatric Center, Post Graduate Institute of Medical Education & Research, Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shivani","family":"Malik","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Genetic-Metabolic Unit, Advanced Pediatric Center, Post Graduate Institute of Medical Education & Research, Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Parminder","family":"Kaur","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Genetic-Metabolic Unit, Advanced Pediatric Center, Post Graduate Institute of Medical Education & Research, Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anupriya","family":"Kaur","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Genetic-Metabolic Unit, Advanced Pediatric Center, Post Graduate Institute of Medical Education & Research, Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"31409","published-online":{"date-parts":[[2021,7,26]]},"reference":[{"issue":"09","key":"ref1","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1097\/GIM.0b013e3181b2e34c","article-title":"The 50th anniversary of the discovery of trisomy 21: the past, present, and future of research and treatment of Down syndrome","volume":"11","author":"A M\u00e9garban\u00e9","year":"2009","journal-title":"Genet Med"},{"issue":"03","key":"ref2","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1016\/j.sjbs.2016.01.044","article-title":"Analysis of Downs syndrome with molecular techniques for future diagnoses","volume":"25","author":"M S Al-Nbaheen","year":"2018","journal-title":"Saudi J Biol Sci"},{"issue":"12","key":"ref3","doi-asserted-by":"crossref","first-page":"1445","DOI":"10.1007\/s00431-010-1253-0","article-title":"Clinical practice. The care of children with Down syndrome","volume":"169","author":"M E Weijerman","year":"2010","journal-title":"Eur J Pediatr"},{"key":"ref4","volume-title":"Thompson & Thompson Genetics in Medicine","author":"R L Nussbaum","year":"2007","edition":"7th ed."},{"issue":"01","key":"ref5","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1002\/ajmg.a.38043","article-title":"Down syndrome in diverse populations","volume":"173","author":"P Kruszka","year":"2017","journal-title":"Am J Med Genet A"},{"issue":"12","key":"ref6","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1016\/j.ejmg.2015.11.003","article-title":"Associated congenital anomalies among cases with Down syndrome","volume":"58","author":"C Stoll","year":"2015","journal-title":"Eur J Med Genet"},{"issue":"02","key":"ref7","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1002\/(SICI)1096-8628(19961016)65:2<160::AID-AJMG16>3.0.CO;2-O","article-title":"Major congenital malformations in Down syndrome","volume":"65","author":"B K\u00e4ll\u00e9n","year":"1996","journal-title":"Am J Med Genet"},{"issue":"05","key":"ref8","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1002\/(SICI)1096-8628(19980605)77:5<431::AID-AJMG15>3.0.CO;2-J","article-title":"Anomalies in Down syndrome individuals in a large population-based registry","volume":"77","author":"C P Torfs","year":"1998","journal-title":"Am J Med Genet"},{"issue":"05","key":"ref9","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1590\/S0104-42302009000500017","article-title":"Clinical profile of children with Down syndrome treated in a genetics outpatient service in the southeast of Brazil","volume":"55","author":"E C Pavarino Bertelli","year":"2009","journal-title":"Rev Assoc Med Bras (1992)"},{"issue":"11","key":"ref10","doi-asserted-by":"crossref","first-page":"1544","DOI":"10.3346\/jkms.2014.29.11.1544","article-title":"Prevalence of congenital heart defects associated with Down syndrome in Korea","volume":"29","author":"M A Kim","year":"2014","journal-title":"J Korean Med Sci"},{"issue":"05","key":"ref11","doi-asserted-by":"crossref","first-page":"386","DOI":"10.5144\/0256-4947.2017.386","article-title":"Prevalence of congenital heart diseases in children with Down syndrome in Mansoura, Egypt: a retrospective descriptive study","volume":"37","author":"A-H El-Gilany","year":"2017","journal-title":"Ann Saudi Med"},{"issue":"04","key":"ref12","doi-asserted-by":"crossref","first-page":"295","DOI":"10.5582\/irdr.2017.01068","article-title":"MTHFR promoter hypermethylation may lead to congenital heart defects in Down syndrome","volume":"6","author":"A Asim","year":"2017","journal-title":"Intractable Rare Dis Res"},{"issue":"641","key":"ref13","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1016\/j.gene.2017.10.044","article-title":"CRELD1 gene variants and atrioventricular septal defects in Down syndrome","volume":"641","author":"A Asim","year":"2018","journal-title":"Gene"},{"issue":"09","key":"ref14","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1002\/bdra.20393","article-title":"Congenital defects among liveborn infants with Down syndrome","volume":"79","author":"M A Cleves","year":"2007","journal-title":"Birth Defects Res A Clin Mol Teratol"},{"issue":"12","key":"ref15","doi-asserted-by":"crossref","first-page":"2979","DOI":"10.1002\/ajmg.a.36780","article-title":"Major congenital anomalies in babies born with Down syndrome: a EUROCAT population-based registry study","volume":"164A","author":"J K Morris","year":"2014","journal-title":"Am J Med Genet A"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1093\/fampra\/cmaa097","article-title":"Burden of family caregivers of Down syndrome children: a cross-sectional study","author":"N Alam El-Deen","year":"2020","journal-title":"Fam Pract"},{"issue":"01","key":"ref17","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.arcped.2019.11.008","article-title":"Feeding problems and gastrointestinal diseases in Down syndrome","volume":"27","author":"A Ravel","year":"2020","journal-title":"Arch Pediatr"},{"issue":"02","key":"ref18","doi-asserted-by":"crossref","first-page":"201","DOI":"10.4103\/JPN.JPN_116_17","article-title":"Down syndrome with Moyamoya disease: a case series","volume":"13","author":"P Kumar","year":"2018","journal-title":"J Pediatr Neurosci"},{"issue":"01","key":"ref19","doi-asserted-by":"crossref","first-page":"105414","DOI":"10.1016\/j.jstrokecerebrovasdis.2020.105414","article-title":"Moyamoya disease associated with Graves' disease and Down syndrome: a case report and literature review","volume":"30","author":"H Nakamura","year":"2021","journal-title":"J Stroke Cerebrovasc Dis"},{"issue":"03","key":"ref20","doi-asserted-by":"crossref","first-page":"gmr16039780","DOI":"10.4238\/gmr16039780","article-title":"Down-Klinefelter syndrome (48,XXY,+21) in a neonate associated with congenital heart disease","volume":"16","author":"M A Rodrigues","year":"2017","journal-title":"Genet Mol Res"},{"issue":"03","key":"ref21","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1159\/000457952","article-title":"Characterization of thyroid abnormalities in a large cohort of children with Down syndrome","volume":"87","author":"M J Pierce","year":"2017","journal-title":"Horm Res Paediatr"}],"container-title":["Journal of Pediatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0041-1732475.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T19:46:04Z","timestamp":1758138364000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0041-1732475"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,26]]},"references-count":21,"journal-issue":{"issue":"01","published-online":{"date-parts":[[2023,1,18]]},"published-print":{"date-parts":[[2023,3]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0041-1732475","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["2146-4596","2146-460X"],"issn-type":[{"value":"2146-4596","type":"print"},{"value":"2146-460X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,7,26]]}}}