{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,8]],"date-time":"2026-02-08T01:03:37Z","timestamp":1770512617265,"version":"3.49.0"},"reference-count":11,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2018,1,8]]},"abstract":"<jats:p>Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder with clinical features consisting of poikiloderma, skeletal abnormalities, sparse hair, absent or scanty eyelashes and eyebrows and short stature. Patients with RTS due to genetic mutations of <jats:italic>RECQL4<\/jats:italic> genes carry a high risk of developing osteosarcoma during childhood. Because of this, early genetic diagnosis is important. Here, we describe a 14-year-old white boy who developed an erythematous rash on both cheeks before the age of 3 months and was noted to have absent eyelashes and scanty eyebrows. He was found to have compound heterozygous mutations of the <jats:italic>RECQL4<\/jats:italic> gene alleles at the age of 6 months and was diagnosed to have RTS type II. He subsequently developed osteosarcoma at age 10 which was successfully treated, and currently he has been tumour free for over 3 years.<\/jats:p>","DOI":"10.1136\/bcr-2017-222384","type":"journal-article","created":{"date-parts":[[2018,1,24]],"date-time":"2018-01-24T06:37:08Z","timestamp":1516775828000},"page":"bcr-2017-222384","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":16,"title":["Rothmund-Thomson syndrome (RTS) with osteosarcoma due to <i>RECQL4<\/i> mutation"],"prefix":"10.1136","volume":"2018","author":[{"given":"Anas","family":"Salih","sequence":"first","affiliation":[{"name":"Department of Combined Medicine-Pediatrics Residency Program, Hurley Medical Center, Flint, Michigan, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susumu","family":"Inoue","sequence":"additional","affiliation":[{"name":"Department of Pediatics, Hurley Medical Center, Flint, Michigan, USA"},{"name":"Department of Pediatrics and Human Development, Michigan State University College of Human Medicine, Flint, Michigan, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nkechi","family":"Onwuzurike","sequence":"additional","affiliation":[{"name":"Department of Combined Medicine-Pediatrics Residency Program, Hurley Medical Center, Flint, Michigan, USA"},{"name":"Department of Pediatrics and Human Development, Michigan State University College of Human Medicine, Flint, Michigan, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2018,1,23]]},"reference":[{"key":"2025082722555057000_2018.jan23_1.bcr-2017-222384.1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-2"},{"key":"2025082722555057000_2018.jan23_1.bcr-2017-222384.2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.154"},{"key":"2025082722555057000_2018.jan23_1.bcr-2017-222384.3","doi-asserted-by":"crossref","first-page":"1298","DOI":"10.1038\/ejhg.2014.18","article-title":"Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson syndrome sibs with mild phenotype","volume":"22","author":"Colombo","year":"2014","journal-title":"Eur J Hum Genet"},{"key":"2025082722555057000_2018.jan23_1.bcr-2017-222384.4","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/95.9.669"},{"key":"2025082722555057000_2018.jan23_1.bcr-2017-222384.5","doi-asserted-by":"crossref","first-page":"1575","DOI":"10.1002\/ajmg.a.33427","article-title":"Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: case report and literature review","volume":"152A","author":"Simon","year":"2010","journal-title":"Am J Med Genet A"},{"key":"2025082722555057000_2018.jan23_1.bcr-2017-222384.6","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2006.08.4558"},{"key":"2025082722555057000_2018.jan23_1.bcr-2017-222384.7","doi-asserted-by":"publisher","DOI":"10.1111\/j.1346-8138.2008.00436.x"},{"key":"2025082722555057000_2018.jan23_1.bcr-2017-222384.8","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1111\/j.1440-1673.1998.tb00496.x","article-title":"Rothmund-Thomson syndrome and tolerance of chemoradiotherapy","volume":"42","author":"Borg","year":"1998","journal-title":"Australas Radiol"},{"key":"2025082722555057000_2018.jan23_1.bcr-2017-222384.9","doi-asserted-by":"publisher","DOI":"10.1097\/00043426-199809000-00018"},{"key":"2025082722555057000_2018.jan23_1.bcr-2017-222384.10","doi-asserted-by":"publisher","DOI":"10.2214\/AJR.07.3619"},{"key":"2025082722555057000_2018.jan23_1.bcr-2017-222384.11","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-17-0465"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2017-222384","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T05:55:59Z","timestamp":1756360559000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2017-222384"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,1,23]]},"references-count":11,"alternative-id":["10.1136\/bcr-2017-222384"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2017-222384","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,1,23]]}}}