{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,11]],"date-time":"2025-12-11T03:25:26Z","timestamp":1765423526137,"version":"3.44.0"},"reference-count":17,"publisher":"BMJ","issue":"7","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,6,25]]},"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:p>Sotos syndrome is a disorder characterised by distinctive facial features, excessive growth during childhood and intellectual disability. While these criteria apply to children and adults, they fall short when applied to neonates. Hyperbilirubinaemia, large for gestational age, hypotonia and seizures, along with cardiac and renal anomalies, are known to be common presentations in neonates. Reports have also added hyperinsulinaemic hypoglycaemia as a presenting feature of Sotos syndrome in neonates. Here, we report a case of Sotos syndrome in a neonate who presented in the neonatal period with recurrent apnoeic episodes with hypotonia, which were later attributed to severe gastro-oesophageal reflux.<\/jats:p>","DOI":"10.1136\/bcr-2024-261325","type":"journal-article","created":{"date-parts":[[2024,7,5]],"date-time":"2024-07-05T10:46:51Z","timestamp":1720176411000},"page":"e261325","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Gastro-oesophageal reflux: rare presentation of Sotos syndrome in a neonate"],"prefix":"10.1136","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9074-4107","authenticated-orcid":false,"given":"Vaidehi Devendra","family":"Rakholia","sequence":"first","affiliation":[{"name":"Department of Paediatrics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6737-2023","authenticated-orcid":false,"given":"Shruthi Kumar","family":"Bharadwaj","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheila Samanta","family":"Mathai","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leslie Edward S","family":"Lewis","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,7,5]]},"reference":[{"key":"2025082711583385000_17.7.e261325.1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196407162710301"},{"key":"2025082711583385000_17.7.e261325.2","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200410000-00001"},{"key":"2025082711583385000_17.7.e261325.3","doi-asserted-by":"crossref","unstructured":"Lane C , Freeth M . Sotos syndrome. In: Chromatin Signaling and Neurological Disorders. Elsevier, 2019: 219\u201334. Available: https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/B9780128137963000109","DOI":"10.1016\/B978-0-12-813796-3.00010-9"},{"key":"2025082711583385000_17.7.e261325.4","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1159\/000496545","article-title":"Sotos syndrome presenting with neonatal Hyperinsulinaemic Hypoglycaemia, extensive thrombosis, and Multisystem involvement","volume":"92","author":"Cerbone","year":"2019","journal-title":"Horm Res Paediatr"},{"key":"2025082711583385000_17.7.e261325.5","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21438"},{"key":"2025082711583385000_17.7.e261325.6","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkn665"},{"key":"2025082711583385000_17.7.e261325.7","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-017-1779-6"},{"key":"2025082711583385000_17.7.e261325.8","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkv1222"},{"key":"2025082711583385000_17.7.e261325.9","unstructured":"Kondamudi NP , Krata L , Wilt AS . Infant apnea. In: StatPearls. Treasure Island, FL: StatPearls Publishing, 2024."},{"key":"2025082711583385000_17.7.e261325.10","unstructured":"Singh M , Alsaleem M , Gray CP . Neonatal sepsis. In: StatPearls. Treasure Island, FL: StatPearls Publishing, 2024. Available: http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK531478"},{"key":"2025082711583385000_17.7.e261325.11","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.1.20"},{"key":"2025082711583385000_17.7.e261325.12","doi-asserted-by":"publisher","DOI":"10.1038\/ng863"},{"key":"2025082711583385000_17.7.e261325.13","first-page":"968","article-title":"Case report of neonatal Sotos syndrome with a new Missense Mutation in the Nsd1 gene and literature analysis in the Chinese Han population","volume":"58","author":"Jin","year":"2022","journal-title":"Med Bogota Colomb"},{"key":"2025082711583385000_17.7.e261325.14","article-title":"A case of Sotos syndrome in a Preterm infant with severe Bronchopulmonary dysplasia and congenital heart disease","volume":"10","author":"Lu","year":"2023","journal-title":"Children (Basel)"},{"key":"2025082711583385000_17.7.e261325.15","doi-asserted-by":"publisher","DOI":"10.1542\/neo.22-2-e104"},{"key":"2025082711583385000_17.7.e261325.16","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1097\/00043426-200403000-00013","article-title":"Cancer in Sotos syndrome: report of a patient with acute Myelocytic leukemia and review of the literature","volume":"26","author":"Al-Mulla","year":"2004","journal-title":"J Pediatr Hematol Oncol"},{"key":"2025082711583385000_17.7.e261325.17","doi-asserted-by":"crossref","DOI":"10.3389\/fneur.2024.1360055","article-title":"Sleep disturbances and behavioral symptoms in pediatric Sotos syndrome","volume":"15","author":"Frattale","year":"2024","journal-title":"Front Neurol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2024-261325","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T18:58:43Z","timestamp":1756321123000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2024-261325"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7]]},"references-count":17,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2024,7,5]]},"published-print":{"date-parts":[[2024,7]]}},"alternative-id":["10.1136\/bcr-2024-261325"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2024-261325","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2024,7]]}}}