{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T00:31:07Z","timestamp":1760747467148,"version":"build-2065373602"},"reference-count":6,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1990,12]]},"abstract":"<jats:p>The cardinal features of the Baller-Gerold syndrome (MIM *21860) are craniosynostosis and radial aplasia. Only 12 cases have been published and these are roughly divisible into two groups: cases without any additional abnormalities and cases with a broad range of additional features. We describe a boy with craniosynostosis and radial aplasia alone and highlight genetic counselling difficulties presented by a sporadic case of this rare syndrome.<\/jats:p>","DOI":"10.1136\/jmg.27.12.784","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"784-787","source":"Crossref","is-referenced-by-count":22,"title":["Normal growth and development in a child with Baller-Gerold syndrome (craniosynostosis and radial aplasia)."],"prefix":"10.1136","volume":"27","author":[{"given":"P","family":"Galea","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J L","family":"Tolmie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1990,12,1]]},"reference":[{"key":"ref_1","first-page":"831","article-title":"Frakturheilung bei einem seltenen Fall kongenitaler Anomalie der oberen Gliedmassen","volume":"84","author":"Gerold, M.","year":"1959","unstructured":"Gerold M. Frakturheilung bei einem seltenen Fall kongenitaler Anomalie der oberen Gliedmassen. Zentralbl Chir 1959;84: 831-4.","journal-title":"Zentralbl Chir"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1002\/tera.1420220105","article-title":"Craniosynostosis with associated cranial base anomalies: a morphologic and histologic study of affected like-sexed twins","volume":"22","author":"Woon, K.C.; Kokich, V.; Clarren, S.; Cohen, M.M.","year":"1980","unstructured":"Woon KC, Kokich V, Clarren S, Cohen MM. Craniosynostosis with associated cranial base anomalies: a morphologic and histologic study of affected like-sexed twins. Teratology 1980;22: 23-35.","journal-title":"Teratology"},{"key":"ref_3","first-page":"505","article-title":"Craniosynostosis: diagnosis, evaluation and management. New Greitzer LJ","author":"Cohen, M.M.","year":"1986","unstructured":"Cohen MM, ed. Craniosynostosis: diagnosis, evaluation and management. New Greitzer LJ, York: Raven Press, 1986:505-8."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1111\/j.1399-0004.1980.tb00126.x","article-title":"Baller-Gerold syndrome; craniosynostosis-radial aplasia syndrome","volume":"17","author":"K, Anyane Yeboa; L, Gunning; AD, Bloom","year":"1980","unstructured":"Anyane Yeboa K, Gunning L, Bloom AD. Baller-Gerold syndrome; craniosynostosis-radial aplasia syndrome. Clin Genet 1980;17:161-6.","journal-title":"Clin Genet"},{"key":"ref_5","first-page":"115","article-title":"The geneticsofhand malformations","volume":"3","author":"Temtamy, S.A.; McKusick, V.A.","year":"1978","unstructured":"Temtamy SA, McKusick VA. The geneticsofhand malformations. Birth Defects 1978;XIV(3):115-7.","journal-title":"Birth Defects"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1136\/jmg.27.6.371","article-title":"The Baller-Gerold syndrome-phenotypic and cytogenetic overlap with Roberts syndrome","volume":"27","author":"Huson, S.M.; Rodgers, C.S.; HallCM, WinterRM","year":"1990","unstructured":"Huson SM, Rodgers CS, HallCM, WinterRM. The Baller-Gerold syndrome-phenotypic and cytogenetic overlap with Roberts syndrome. J Med Genet 1990;27:371-5.","journal-title":"J Med Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.27.12.784","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T17:07:00Z","timestamp":1760720820000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.27.12.784"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,12]]},"references-count":6,"journal-issue":{"issue":"12","published-online":{"date-parts":[[1990,12,1]]},"published-print":{"date-parts":[[1990,12]]}},"alternative-id":["10.1136\/jmg.27.12.784"],"URL":"https:\/\/doi.org\/10.1136\/jmg.27.12.784","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1990,12]]}}}