{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T03:45:26Z","timestamp":1792813526895,"version":"4.5.0"},"reference-count":36,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2006,2]]},"abstract":"<jats:p>Baller-Gerold syndrome (BGS) is a rare autosomal recessive condition with radial aplasia\/hypoplasia and craniosynostosis (OMIM 218600). Of &gt;20 cases reported so far, a few appear atypical and have been reassigned to other nosologic entities, including Fanconi anaemia, Roberts SC phocomelia, and Pfeiffer syndromes after demonstration of corresponding cytogenetic or molecular abnormalities. Clinical overlap between BGS, Rothmund-Thomson syndrome (RTS), and RAPADILINO syndrome is noticeable. Because patients with RAPADILINO syndrome and a subset of patients with RTS have <jats:italic>RECQL4<\/jats:italic> mutations, we reassessed two previously reported BGS families and found causal mutations in <jats:italic>RECQL4<\/jats:italic> in both. In the first family, four affected offspring had craniosynostosis and radial defect and one of them developed poikiloderma. In this family, compound heterozygosity for a R1021W missense mutation and a g.2886delT frameshift mutation of exon 9 was found. In the second family, the affected male had craniosynostosis, radial ray defect, poikiloderma, and short stature. He had a homozygous splice site mutation (IVS17-2A&gt;C). In both families, the affected offspring had craniosynostosis, radial defects, and growth retardation, and two developed poikiloderma. Our results confirm that BGS in a subgroup of patients is due to <jats:italic>RECQL4<\/jats:italic> mutations and could be integrated into a clinical spectrum that encompasses RTS and RAPADILINO syndrome.<\/jats:p>","DOI":"10.1136\/jmg.2005.031781","type":"journal-article","created":{"date-parts":[[2005,6,17]],"date-time":"2005-06-17T20:24:12Z","timestamp":1119039852000},"page":"148-152","source":"Crossref","is-referenced-by-count":177,"title":["Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the <i>RECQL4<\/i> gene"],"prefix":"10.1136","volume":"43","author":[{"given":"L","family":"Van Maldergem","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H A","family":"Siitonen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"Jalkh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Chouery","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"De Roy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V","family":"Delague","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Muenke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E W","family":"Jabs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Cai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L L","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S E","family":"Plon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Fourneau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Kestil\u00e4","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y","family":"Gillerot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"M\u00e9garban\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Verloes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2005,6,17]]},"reference":[{"key":"2025100521452288000_43.2.148.1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.7.473"},{"key":"2025100521452288000_43.2.148.2","unstructured":"Cohen MM Jr, MacLean RE. Craniosynostosis: diagnosis, evaluation, and management. 2nd ed. New York: Oxford University Press, 2000."},{"key":"2025100521452288000_43.2.148.3","first-page":"782","volume":"29","year":"1950","journal-title":"Z Menschl Vererb Konstitutionsl"},{"key":"2025100521452288000_43.2.148.4","unstructured":"Gerold M. [Healing of a fracture in an unusual case of congenital anomaly of the upper extremities. ] Zentralbl Chir 1959;84:831\u20134."},{"key":"2025100521452288000_43.2.148.5","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1979.02130120071014"},{"key":"2025100521452288000_43.2.148.6","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(74)80017-X"},{"key":"2025100521452288000_43.2.148.7","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1111\/j.1399-0004.1980.tb00126.x","volume":"17","year":"1980","journal-title":"Clin Genet"},{"key":"2025100521452288000_43.2.148.8","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320100206"},{"key":"2025100521452288000_43.2.148.9","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370403"},{"key":"2025100521452288000_43.2.148.10","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.12.784"},{"key":"2025100521452288000_43.2.148.11","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.4.266"},{"key":"2025100521452288000_43.2.148.12","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1097\/00019605-200009040-00018","volume":"9","year":"2000","journal-title":"Clin Dysmorphol"},{"key":"2025100521452288000_43.2.148.13","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320400312"},{"key":"2025100521452288000_43.2.148.14","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430624"},{"key":"2025100521452288000_43.2.148.15","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320500123"},{"key":"2025100521452288000_43.2.148.16","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960102)61:1<65::AID-AJMG12>3.0.CO;2-U"},{"key":"2025100521452288000_43.2.148.17","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320610103"},{"key":"2025100521452288000_43.2.148.18","first-page":"142","volume":"11","year":"1991","journal-title":"Proc Greenwood Genet Center"},{"key":"2025100521452288000_43.2.148.19","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.6.371"},{"key":"2025100521452288000_43.2.148.20","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990115)82:2<170::AID-AJMG14>3.0.CO;2-X"},{"key":"2025100521452288000_43.2.148.21","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10065"},{"key":"2025100521452288000_43.2.148.22","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980724)78:4<356::AID-AJMG10>3.0.CO;2-H"},{"key":"2025100521452288000_43.2.148.23","doi-asserted-by":"publisher","DOI":"10.1086\/301855"},{"key":"2025100521452288000_43.2.148.24","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg306"},{"key":"2025100521452288000_43.2.148.25","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1002\/ajmg.a.20154","volume":"120A","year":"2003","journal-title":"Am J Med Genet"},{"key":"2025100521452288000_43.2.148.26","doi-asserted-by":"crossref","unstructured":"Lindor NM, Furuichi Y, Kitao S, Shimamoto A, Arndt C, Jalal S. Rothmund-Thomson syndrome due to RECQL4 helicase mutations: report and clinical and molecular comparison with Bloom syndrome and Werner syndrome. Am J Med Genet. 2000;90;223\u20138.","DOI":"10.1002\/(SICI)1096-8628(20000131)90:3<223::AID-AJMG7>3.0.CO;2-Z"},{"key":"2025100521452288000_43.2.148.27","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010722)102:1<11::AID-AJMG1413>3.0.CO;2-A"},{"key":"2025100521452288000_43.2.148.28","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/95.9.669"},{"key":"2025100521452288000_43.2.148.29","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330312"},{"key":"2025100521452288000_43.2.148.30","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440604"},{"key":"2025100521452288000_43.2.148.31","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199804000-00011"},{"key":"2025100521452288000_43.2.148.32","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-9926(199907)60:1<37::AID-TERA10>3.0.CO;2-R"},{"key":"2025100521452288000_43.2.148.33","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1097\/00019605-200009020-00001","volume":"9","year":"2000","journal-title":"Clin Dysmorphol"},{"key":"2025100521452288000_43.2.148.34","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1999.5959"},{"key":"2025100521452288000_43.2.148.35","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh269"},{"key":"2025100521452288000_43.2.148.36","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.9.763"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2005.031781","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:45:28Z","timestamp":1759725928000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2005.031781"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,6,17]]},"references-count":36,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2006,2,7]]},"published-print":{"date-parts":[[2006,2]]}},"alternative-id":["10.1136\/jmg.2005.031781"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2005.031781","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,6,17]]}}}