{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T09:46:05Z","timestamp":1771494365181,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2021,8,18]],"date-time":"2021-08-18T00:00:00Z","timestamp":1629244800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["304852\/2016\u20103"],"award-info":[{"award-number":["304852\/2016\u20103"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Sotos syndrome is characterized by overgrowth starting before birth through childhood with intellectual disability and craniofacial anomalies. The majority of patients are large for gestational age with developmental delay or intellectual disability. The majority of cases are caused by pathogenic variants in <jats:italic>NSD1<\/jats:italic>. The most consistent physical features in this disorder are facial dysmorphisms including prominent forehead, downslanted palpebral fissures, prognathism with a pointed chin, and a long and narrow face. We present a follow\u2010up to a cohort of 11 individuals found to harbor heterozygous, pathogenic, or likely pathogenic variants in <jats:italic>NSD1<\/jats:italic>. We analyzed the facial dysmorphisms and the condition using retrospective over 20\u2009years. Among these patients, followed in our medical genetics outpatient clinic for variable periods of time, all had a phenotype compatible with the characteristic Sotos syndrome facial features, which evolved with time and became superimposed with natural aging modifications. We present here a long\u2010term follow\u2010up of facial features of Brazilian patients with molecularly confirmed Sotos syndrome. In this largest Brazilian cohort of molecularly confirmed patients with Sotos syndrome to date, we provide a careful description of the facial phenotype, which becomes less pronounced with aging and possibly more difficult to recognize in adults. These results may have broad clinical implications for diagnosis and add to the global clinical delineation of this condition.<\/jats:p>","DOI":"10.1002\/ajmg.a.62454","type":"journal-article","created":{"date-parts":[[2021,8,18]],"date-time":"2021-08-18T09:57:22Z","timestamp":1629280642000},"page":"3916-3923","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Twenty\u2010year follow\u2010up of the facial phenotype of Brazilian patients with Sotos syndrome"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0335-8799","authenticated-orcid":false,"given":"Matheus Augusto Ara\u00fajo","family":"Castro","sequence":"first","affiliation":[{"name":"Unidade de Gen\u00e9tica do Instituto da Crian\u00e7a\u2014Hospital das Cl\u00ednicas HCFMUSP, Faculdade de Medicina Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0826-1745","authenticated-orcid":false,"given":"Juliana Heather Vedovato","family":"dos Santos","sequence":"additional","affiliation":[{"name":"Unidade de Gen\u00e9tica do Instituto da Crian\u00e7a\u2014Hospital das Cl\u00ednicas HCFMUSP, Faculdade de Medicina Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9223-7341","authenticated-orcid":false,"given":"Rachel Sayuri","family":"Honjo","sequence":"additional","affiliation":[{"name":"Unidade de Gen\u00e9tica do Instituto da Crian\u00e7a\u2014Hospital das Cl\u00ednicas HCFMUSP, Faculdade de Medicina Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0490-8257","authenticated-orcid":false,"given":"Guilherme Lopes","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Unidade de Gen\u00e9tica do Instituto da Crian\u00e7a\u2014Hospital das Cl\u00ednicas HCFMUSP, Faculdade de Medicina Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4701-6777","authenticated-orcid":false,"given":"D\u00e9bora Romeo","family":"Bertola","sequence":"additional","affiliation":[{"name":"Unidade de Gen\u00e9tica do Instituto da Crian\u00e7a\u2014Hospital das Cl\u00ednicas HCFMUSP, Faculdade de Medicina Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9765-9703","authenticated-orcid":false,"given":"Anna C.","family":"Hurst","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Alabama at Birmingham  Birmingham Alabama USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7060-9872","authenticated-orcid":false,"given":"Lynn P.","family":"Chorich","sequence":"additional","affiliation":[{"name":"Section of Reproductive Endocrinology, Infertility, &amp; Genetics, Medical College of Georgia Augusta University  Augusta Georgia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7369-9575","authenticated-orcid":false,"given":"Lawrence C.","family":"Layman","sequence":"additional","affiliation":[{"name":"Section of Reproductive Endocrinology, Infertility, &amp; Genetics, Medical College of Georgia Augusta University  Augusta Georgia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1754-1300","authenticated-orcid":false,"given":"Chong Ae","family":"Kim","sequence":"additional","affiliation":[{"name":"Unidade de Gen\u00e9tica do Instituto da Crian\u00e7a\u2014Hospital das Cl\u00ednicas HCFMUSP, Faculdade de Medicina Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4497-4686","authenticated-orcid":false,"given":"Hyung\u2010Goo","family":"Kim","sequence":"additional","affiliation":[{"name":"Neurological Disorders Research Center, Qatar Biomedical Research Institute Hamad Bin Khalifa University  Doha Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,8,18]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961002)65:1<13::AID-AJMG2>3.0.CO;2-Z"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/00043426-200403000-00013"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-2-36"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.1.20"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1159\/000081063"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30032"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34156"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31738"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes7110096"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2009.06.039"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30667"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.4.285"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981002)79:4<294::AID-AJMG12>3.0.CO;2-M"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196407162710301"},{"key":"e_1_2_11_17_1","unstructured":"Tatton\u2010BrownK ColeT RahmanN.Sotos syndrome.Ncbi.nlm.nih.gov.2020. 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