{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T07:31:10Z","timestamp":1778830270346,"version":"3.51.4"},"reference-count":27,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1998,2]]},"abstract":"<jats:p>Simpson-Golabi-Behmel syndrome (SGBS) is an X linked disorder characterised by pre- and postnatal overgrowth, coarse facial features, and visceral and skeletal abnormalities. Like other overgrowth syndromes, in the SGBS there is an increased risk for developing neoplasia, mainly embryonic, such as Wilms tumour. We report a 3 year old male patient with SGBS and hepatocellular carcinoma, a previously undescribed tumour associated with the syndrome.<\/jats:p>","DOI":"10.1136\/jmg.35.2.153","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"153-156","source":"Crossref","is-referenced-by-count":41,"title":["A patient with Simpson-Golabi-Behmel syndrome and hepatocellular carcinoma."],"prefix":"10.1136","volume":"35","author":[{"given":"P","family":"Lapunzina","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I","family":"Badia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Galoppo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"De Matteo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Silberman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Tello","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Grichener","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Hughes-Benzie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1998,2,1]]},"reference":[{"key":"ref_1","article-title":"and Beckwith-Wiedemann syndrome (hepatoblastoma). -' In overgrowth syndromes, serum alphafetoprotein is considered to be an important marker for embryonal cell tumours.'5 Therefore, the association of hepatocellular carcinoma and SGBS, though previously undescribed, might have been expected. In patients with somatic overgrowth, HughesBenzie et al (unpublished data) recommended that embryonal tumours might be routinely screened by serum alphafetoprotein and betahCG measurements plus abdominal ultrasound every four months up to 5 years of age, every six months between 5","volume-title":"and 8 years, and yearly in children older than 8 years. The; present patient had not been on a tumour screening programme because he had not been diagnosed as having SGBS until he was referred to our hospital","unstructured":"and Beckwith-Wiedemann syndrome (hepatoblastoma). -' In overgrowth syndromes, serum alphafetoprotein is considered to be an important marker for embryonal cell tumours.'5 Therefore, the association of hepatocellular carcinoma and SGBS, though previously undescribed, might have been expected. In patients with somatic overgrowth, HughesBenzie et al (unpublished data) recommended that embryonal tumours might be routinely screened by serum alphafetoprotein and betahCG measurements plus abdominal ultrasound every four months up to 5 years of age, every six months between 5 and 8 years, and yearly in children older than 8 years. The present patient had not been on a tumour screening programme because he had not been diagnosed as having SGBS until he was referred to our hospital."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1002\/ajmg.1320430165","article-title":"Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumour: localization of the gene to Xqcen-q21","volume":"43","author":"Hughes-Benzie, R.M.; Hunter, A.G.W.; Allanson, J.E.; MacKenzie, A.E.","year":"1992","unstructured":"Hughes-Benzie RM, Hunter AGW, Allanson JE, MacKenzie AE. Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumour: localization of the gene to Xqcen-q21. Am JMed Genet 1992;43:428-35.","journal-title":"Am JMed Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1038\/ng0396-241","article-title":"Mutations in GPC3, a glypican gene, cause the Simpson-GolabiBehmel overgrowth syndrome","volume":"12","author":"Pilia, G.; Hughes-Benzie, R.M.; MacKenzie, A.","year":"1996","unstructured":"Pilia G, Hughes-Benzie RM, MacKenzie A, et al. Mutations in GPC3, a glypican gene, cause the Simpson-GolabiBehmel overgrowth syndrome. Nat Genet 1996:12:241-7.","journal-title":"Nat Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1038\/ng0396-225","article-title":"Glypicans: a growing trend","volume":"12","author":"Weksberg, R.; Squire, J.A.; Templeton, D.M.","year":"1996","unstructured":"Weksberg R, Squire JA, Templeton DM. Glypicans: a growing trend. 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Proc Greenwood Genetic Center 1992;12:93A."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.35.2.153","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:22:38Z","timestamp":1760768558000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.35.2.153"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,2]]},"references-count":27,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1998,2,1]]},"published-print":{"date-parts":[[1998,2]]}},"alternative-id":["10.1136\/jmg.35.2.153"],"URL":"https:\/\/doi.org\/10.1136\/jmg.35.2.153","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1998,2]]}}}