{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T20:28:02Z","timestamp":1786739282283,"version":"build-2736575974"},"reference-count":9,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","license":[{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,6,9]],"date-time":"2020-06-09T00:00:00Z","timestamp":1591660800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:sec>\n                    <jats:title\/>\n                    <jats:p>\n                      Childhood overgrowth syndromes are relatively rare. A generalized overgrowth syndrome should be suspected when tall stature and macrocephaly are present, after ruling out nutritional excess and endocrinopathies. Sotos syndrome is a well-described overgrowth syndrome due to haploinsufficiency of the\n                      <jats:italic toggle=\"yes\">NSD1<\/jats:italic>\n                      gene. We present a case of an infant with permanent congenital hypothyroidism, who had tall stature and macrocephaly by 7 months of age. He was noted to have typical facial features, mild gross motor and speech delay, and scoliosis by 13 months of age. Gene sequencing revealed a heterozygous novel c6076_6087del12: p.Asn2026_Thr2029del variant in exon 20 of the\n                      <jats:italic toggle=\"yes\">NSD1<\/jats:italic>\n                      gene, pathogenic for Sotos syndrome. Congenital hypothyroidism with Sotos syndrome has been infrequently reported and may expand the spectrum of disease characteristics. Early diagnosis of overgrowth syndromes is important for developmental follow up and multidisciplinary care coordination.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1016\/j.ijpam.2020.06.001","type":"journal-article","created":{"date-parts":[[2020,6,26]],"date-time":"2020-06-26T11:27:41Z","timestamp":1593170861000},"page":"191-194","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":9,"title":["Sotos syndrome with a novel mutation in the NSD1 gene associated with congenital hypothyroidism"],"prefix":"10.4103","volume":"8","author":[{"given":"Arushi","family":"Verma","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Parisa","family":"Salehi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Hing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alissa Jeanne Curda","family":"Roberts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-12-20240903","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1159\/000484532","article-title":"A clinical review of generalized overgrowth syndromes in the era of massively parallel sequencing","volume":"9","author":"Kamien","year":"2018","journal-title":"Mol Syndromol"},{"key":"R2-12-20240903","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1002\/ajmg.c.31357","article-title":"Endocrine control of growth","volume":"163C","author":"Murray","year":"2013","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"R3-12-20240903","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1097\/MOP.0b013e3283558995","article-title":"Overgrowth syndromes","volume":"4","author":"Neylon","year":"2012","journal-title":"Curr Opin Pediatr"},{"key":"R4-12-20240903","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1086\/432082","article-title":"Genotype-phenotype Associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations","volume":"77","author":"Tatton-Brown","year":"2005","journal-title":"Am J Hum Genet"},{"key":"R6-12-20240903","doi-asserted-by":"crossref","first-page":"1142","DOI":"10.1111\/j.1651-2227.2005.tb02059.x","article-title":"Auxological data in patients clinically suspected of Sotos syndrome with NSD1 gene alterations","volume":"94","author":"de","year":"2005","journal-title":"Acta Paediatr"},{"key":"R7-12-20240903","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1002\/ajmg.a.30799","article-title":"Speech-language characteristics of children with Sotos syndrome","volume":"136A","author":"Ball","year":"2005","journal-title":"Am J Med Genet A"},{"key":"R8-12-20240903","first-page":"226","article-title":"Investigations in dominant Sotos syndrome","volume":"24","author":"Smith","year":"1981","journal-title":"Ann Genet"},{"key":"R9-12-20240903","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1038\/ng863","article-title":"Haploinsufficiency of NSD1 causes Sotos syndrome","volume":"30","author":"Kurotaki","year":"2002","journal-title":"Nat Genet"},{"key":"R10-12-20240903","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1136\/jmg.2004.024158","article-title":"Genetics of congenital hypothyroidism","volume":"42","author":"Park","year":"2005","journal-title":"J Med Genet"}],"container-title":["International Journal of Pediatrics and Adolescent Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2352646720300557?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2352646720300557?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.ovid.com\/10.1016\/j.ijpam.2020.06.001","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T19:27:32Z","timestamp":1786735652000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.1016\/j.ijpam.2020.06.001"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9]]},"references-count":9,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2021]]}},"URL":"https:\/\/doi.org\/10.1016\/j.ijpam.2020.06.001","relation":{},"ISSN":["2352-6467"],"issn-type":[{"value":"2352-6467","type":"print"}],"subject":[],"published":{"date-parts":[[2021,9]]}}}