{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T06:10:18Z","timestamp":1759731018604,"version":"build-2065373602"},"reference-count":11,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1992,4]]},"abstract":"<jats:p>A case of severe craniosynostosis-radial aplasia (Baller-Gerold) syndrome is described in a newborn male, following a pregnancy complicated by polyhydramnios and intrauterine growth retardation. Death occurred after two hours owing to a prolonged apnoeic spell. Extensive agenesis of the frontal and parietal bones, resulting in a very large fontanelle, in addition to coronal bilateral craniosynostosis was observed at necropsy. There was also bilateral radial agenesis, oligodactyly of the hands and feet, a midline facial angioma, and a scrotally positioned anus, all of which have been described in some of the 10 previously reported cases. Microcephaly, erythroblastosis of the liver, and pancreatic islet cell hypertrophy were also noted.<\/jats:p>","DOI":"10.1136\/jmg.29.4.266","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"266-268","source":"Crossref","is-referenced-by-count":21,"title":["The Baller-Gerold syndrome."],"prefix":"10.1136","volume":"29","author":[{"given":"L","family":"Van Maldergem","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Verloes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Lejeune","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y","family":"Gillerot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1992,4,1]]},"reference":[{"key":"ref_1","first-page":"782","volume":"29","author":"und Inzucht. Z Menschl Vererbungs Konstit Lehre, Baller F.Radiusaplasie","year":"1950","unstructured":"Baller F. Radiusaplasie und Inzucht. Z Menschl Vererbungs Konstit Lehre 1950;29:782-90."},{"key":"ref_2","first-page":"831","article-title":"Frakturheilung bei einen seltenen Fall kongenitaler Anomalie der oberen Gliedmassen","volume":"84","author":"Gerold, M.","year":"1959","unstructured":"Gerold M. Frakturheilung bei einen seltenen Fall kongenitaler Anomalie der oberen Gliedmassen. Zentralbl Chir 1959;84:831-4.","journal-title":"Zentralbl Chir"},{"key":"ref_3","first-page":"723","article-title":"Craniosynostosis-radial aplasia syndrome","volume":"84","author":"Greitzer, L.J.; Jones, K.L.; Schnall, B.S.; Smith, D.W.","year":"1974","unstructured":"Greitzer LJ, Jones KL, Schnall BS, Smith DW. Craniosynostosis-radial aplasia syndrome. 7 Pediatr 1974; 84:723-4."},{"key":"ref_4","article-title":"Craniosynostosis and syndromes with craniosynostosis: incidence, genetics, penetrance, variability and new syndrome updating","volume-title":"variability in malformation syndromes","author":"MM, Jr, Cohen","year":"1979","unstructured":"Cohen MM Jr. Craniosynostosis and syndromes with craniosynostosis: incidence, genetics, penetrance, variability and new syndrome updating. In: O'Donnell JJ, Hall BD, eds. Penetrance and variability in malformation syndromes. New York: Alan R Liss, 1979."},{"key":"ref_5","first-page":"1279","article-title":"Craniosynostosis-radial aplasia: Baller-Gerold syndrome","volume":"133","author":"Sklower, S.L.; Willer, J.P.; MM, Jr, Cohen; Feingold, M.; Desnick, R.J.","year":"1979","unstructured":"Sklower SL, Willer JP, Cohen MM Jr, Feingold M, Desnick RJ. Craniosynostosis-radial aplasia: Baller-Gerold syndrome. AmI Dis Child 1979;133:1279-80. Van Maldergem, Verloes, Lejeune, Gillerot","journal-title":"AmI Dis Child"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1002\/tera.1420220105","article-title":"Craniosynostosis with associated cranial base anomalies. A morphologic study of affected like-sexed twins","volume":"22","author":"Woom, K.C.; Kokich, V.G.; Clarren, S.K.; MM, Jr, Cohen","year":"1980","unstructured":"Woom KC, Kokich VG, Clarren SK, Cohen MM Jr. Craniosynostosis with associated cranial base anomalies. A morphologic study of affected like-sexed twins. Teratology 1980;22:23-35.","journal-title":"Teratology"},{"key":"ref_7","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":"Anyane-Yeboa, K.; Gunning, L.; Bloom, A.D.","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_8","first-page":"133","article-title":"Brief clinical report. A sixth report (eighth case) of craniosynostosisradial aplasia (Baller-Gerold) syndrome","volume":"16","author":"Pelias, M.; Superneau, D.W.; Thurmon, T.F.","year":"1981","unstructured":"Pelias M, Superneau DW, Thurmon TF. Brief clinical report. A sixth report (eighth case) of craniosynostosisradial aplasia (Baller-Gerold) syndrome. Am Med Genet 1981;16:133-9.","journal-title":"Am Med Genet"},{"key":"ref_9","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.; Hall, C.M.; Winter, R.M.","year":"1990","unstructured":"Huson SM, Rodgers CS, Hall CM, Winter RM. The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome. J Med Genet 1990;27:371-5.","journal-title":"J Med Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1002\/ajmg.1320370403","article-title":"Baller-Gerold syndrome: an 11th case of craniosynostosis and radial aplasia","volume":"37","author":"Boudreaux, J.M.; Colon, M.A.; Larusso, G.D.; Parro, E.A.; Pelias, M.Z.","year":"1990","unstructured":"Boudreaux JM, Colon MA, Larusso GD, Parro EA, Pelias MZ. Baller-Gerold syndrome: an 11th case of craniosynostosis and radial aplasia. Am J Med Genet 1990; 37:447-50.","journal-title":"Am J Med Genet"},{"key":"ref_11","first-page":"413","article-title":"Syndromes with craniosynostosis","volume-title":"diagnosis, evaluation and management","author":"MM, Jr, Cohen","year":"1986","unstructured":"Cohen MM Jr. Syndromes with craniosynostosis. In: Cohen MM Jr, ed. Craniosynostosis: diagnosis, evaluation and management. New York: Raven Press 1986:413-590."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.29.4.266","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T03:46:53Z","timestamp":1759722413000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.29.4.266"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,4]]},"references-count":11,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1992,4,1]]},"published-print":{"date-parts":[[1992,4]]}},"alternative-id":["10.1136\/jmg.29.4.266"],"URL":"https:\/\/doi.org\/10.1136\/jmg.29.4.266","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1992,4]]}}}