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We report on a new patient with coronal and sagittal suture involvement, mild unilateral radial and thumb hypoplasia, imperforate anus, rectovaginal fistula, prenatal onset growth deficiency, and mental retardation. This patient also had some minor oralfacial anomalies, severe nonfamilial myopia, bilateral conductive hearing loss, ureteric reflux, and skeletal anomalies other than those noted in the skull and upper limbs. This patient confirms the clinical variability among the patients and the wide pleiotropic effects of the BGS gene.<\/jats:p>","DOI":"10.1002\/ajmg.1320420323","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:33:16Z","timestamp":1118550796000},"page":"365-368","source":"Crossref","is-referenced-by-count":22,"title":["Baller\u2010Gerold syndrome: Case report and clinical and radiological review"],"prefix":"10.1002","volume":"42","author":[{"given":"Bruno","family":"Dallapiccola","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leopoldo","family":"Zelante","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita","family":"Mingarelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michele","family":"Pellegrino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincenzo","family":"Bertozzi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1980.tb00126.x"},{"key":"e_1_2_1_3_1","first-page":"135","article-title":"A further delineation of Baller\u2010Gerold syndrome","volume":"34","author":"Arena JFP","year":"1989","journal-title":"Am J Med Genet"},{"key":"e_1_2_1_4_1","first-page":"782","article-title":"Radiusaplasie und Inzucht","volume":"29","author":"Baller F","year":"1950","journal-title":"Z Menschl Vererb\u2010Konst\u2010Lehre"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370403"},{"key":"e_1_2_1_6_1","volume-title":"Penetrance and Variability in Malformation Syndromes","author":"Cohen MM","year":"1979"},{"issue":"5","key":"e_1_2_1_6_2","first-page":"13","article-title":"National Foundation\u2010March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_7_1","first-page":"418","volume-title":"Craniosynostosis: Diagnosis, Evaluation and Management","author":"Cohen MM","year":"1986"},{"key":"e_1_2_1_8_1","first-page":"1279","article-title":"Clinical memoranda: Craniosynostosis\u2010radial aplasia: Baller\u2010Gerold syndrome","volume":"133","author":"Feingold M","year":"1979","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.12.784"},{"key":"e_1_2_1_10_1","first-page":"831","article-title":"Frakturheilung bei einem seltenen Fall kongenitaler Anomalie der oberen Gliedmassen","volume":"84","author":"Gerold M","year":"1959","journal-title":"Zentralbl Chir"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(74)80017-X"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.6.371"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320100206"},{"key":"e_1_2_1_14_1","volume-title":"The Genetics of Hand Malformations","author":"Temtamy SA"},{"issue":"3","key":"e_1_2_1_14_2","first-page":"115","article-title":"National Foundation\u2013March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420220105"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320420323","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320420323","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T06:09:19Z","timestamp":1698127759000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320420323"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,2]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1992,2]]}},"alternative-id":["10.1002\/ajmg.1320420323"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320420323","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,2]]}}}