{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T20:08:17Z","timestamp":1790798897516,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,9,3]],"date-time":"2019-09-03T00:00:00Z","timestamp":1567468800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000272","name":"National Institute for Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["100210"],"award-info":[{"award-number":["100210"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Sotos syndrome is an overgrowth\u2010intellectual disability (OGID) syndrome caused by <jats:italic>NSD1<\/jats:italic> pathogenic variants and characterized by a distinctive facial appearance, an intellectual disability, tall stature and\/or macrocephaly. Other associated clinical features include scoliosis, seizures, renal anomalies, and cardiac anomalies. However, many of the published Sotos syndrome clinical descriptions are based on studies of children; the phenotype in adults with Sotos syndrome is not yet well described. Given that it is now 17\u2009years since disruption of <jats:italic>NSD1<\/jats:italic> was shown to cause Sotos syndrome, many of the children first reported are now adults. It is therefore timely to investigate the phenotype of 44 adults with Sotos syndrome and <jats:italic>NSD1<\/jats:italic> pathogenic variants. We have shown that adults with Sotos syndrome display a wide spectrum of intellectual ability with functioning ranging from fully independent to fully dependent. Reproductive rates are low. In our cohort, median height in adult women is +1.9 <jats:italic>SD<\/jats:italic> and men +0.5 <jats:italic>SD<\/jats:italic>. There is a distinctive facial appearance in adults with a tall, square, prominent chin. Reassuringly, adults with Sotos syndrome are generally healthy with few new medical issues; however, lymphedema, poor dentition, hearing loss, contractures and tremor have developed in a small number of individuals.<\/jats:p>","DOI":"10.1002\/ajmg.c.31738","type":"journal-article","created":{"date-parts":[[2019,9,3]],"date-time":"2019-09-03T19:54:23Z","timestamp":1567540463000},"page":"502-508","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":48,"title":["The phenotype of Sotos syndrome in adulthood: A review of 44 individuals"],"prefix":"10.1002","volume":"181","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0216-3909","authenticated-orcid":false,"given":"Alison","family":"Foster","sequence":"first","affiliation":[{"name":"University of Birmingham, Institution of Cancer and Genomic Sciences  Birmingham UK"},{"name":"West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women and 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