{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,5]],"date-time":"2026-07-05T22:07:03Z","timestamp":1783289223448,"version":"3.54.6"},"reference-count":13,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,11,15]],"date-time":"2020-11-15T00:00:00Z","timestamp":1605398400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Silver\u2013Russell syndrome (SRS) is characterized by pre\u2010 and postnatal growth deficiency. It is most often caused by hypomethylation of the paternal imprinting center 1 of chromosome 11p15.5. In contrast, Sotos syndrome is an overgrowth syndrome that results either from pathogenic <jats:italic>NSD1<\/jats:italic> gene variants or copy number variations affecting the <jats:italic>NSD1<\/jats:italic> gene. Here, we report on a 6 month\u2010old boy with severe short stature, relative macrocephaly, severe feeding difficulties with underweight, muscular hypotonia, motor delay, medullary nephrocalcinosis, bilateral sensorineural hearing impairment and facial dysmorphisms. SNP array revealed a 2.1 Mb <jats:italic>de novo<\/jats:italic> interstitial deletion of 5q35.2q35.3 encompassing the <jats:italic>NSD1<\/jats:italic> gene. As Sotos syndrome could not satisfactorily explain his symptoms, diagnostic testing for SRS was initiated. It demonstrated hypomethylation of the imprinting center 1 of chromosome 11p15.5 confirming the clinically suspected SRS. We compared the symptoms of our patient with the typical clinical features of individuals with SRS and Sotos syndrome, respectively. To our knowledge, this is the first study reporting the very unusual coincidence of both Sotos syndrome and SRS in the same patient.<\/jats:p>","DOI":"10.1002\/ajmg.a.61967","type":"journal-article","created":{"date-parts":[[2020,11,16]],"date-time":"2020-11-16T07:44:50Z","timestamp":1605512690000},"page":"549-554","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A boy with <scp>Silver<\/scp>\u2013<scp>Russell<\/scp> syndrome and Sotos syndrome"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2708-9642","authenticated-orcid":false,"given":"Eva M. 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