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Her mother had less severe OFD I associated with polycystic kidneys but her renal function was normal and there was no clinical or radiological evidence of a structural abnormality of the brain.<\/jats:p>","DOI":"10.1136\/jmg.24.2.116","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"116-118","source":"Crossref","is-referenced-by-count":48,"title":["Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum."],"prefix":"10.1136","volume":"24","author":[{"given":"A A","family":"Connacher","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C C","family":"Forsyth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W K","family":"Stewart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1987,2,1]]},"reference":[{"key":"ref_1","first-page":"7","article-title":"Dysmorphie des freins buccaux","volume":"25","author":"Papillon-Leage (Mme), Psaume J","year":"1954","unstructured":"Papillon-Leage (Mme), Psaume J. Dysmorphie des freins buccaux. Actual Odontostomatol (Paris) 1954;25:7-26.","journal-title":"Actual Odontostomatol (Paris)"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1056\/NEJM196411192712101","article-title":"Studies of a family with the oral-facial-digital syndrome","volume":"271","author":"Doege, T.C.; Thuline, H.C.; Pnrest, J.H.; Norby, D.E.; Bryant, J.S.","year":"1964","unstructured":"Doege TC, Thuline HC, Pnrest JH, Norby DE, Bryant JS. Studies of a family with the oral-facial-digital syndrome. N Engl J Med 1964;271:1073-80.","journal-title":"N Engl J Med"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1136\/jmg.3.2.145","article-title":"Oral-facial-digital syndrome, with polycystic kidneys and liver: pathological and cytogenctic studics","volume":"3","author":"Tucker, C.C.; Finley, S.C.; Tucker, E.S.; Finley, W.H.","year":"1966","unstructured":"Tucker CC, Finley SC, Tucker ES, Finley WH. Oral-facial-digital syndrome, with polycystic kidneys and liver: pathological and cytogenctic studics. J Med Geniet 1966;3:145-7.","journal-title":"J Med Geniet"},{"key":"ref_4","first-page":"\"89","article-title":"Muller H-1. Das orofacio-digitale Syndrom: Symptome und Prognose","volume":"112","author":"Majewski, F.; Lenz, W.; Pfeiffer, R.A.; Tunte, W.","year":"1972","unstructured":"Majewski F, Lenz W, Pfeiffer RA, Tunte W, Muller H-1. Das orofacio-digitale Syndrom: Symptome und Prognose. Z Kiniderheilkd 1972;112:89-1 12. fHarrod MJE, Stokcs J, Peede LF, Goldstein JL. Polycystic kidney disease in a patient with the oral-facial-digital syndrometype I.Clin Geniet 1976;9:183-6.","journal-title":"Polycystic kidney disease in a patient with the oral-facial-digital syndrometype; I. Clin Geniet"},{"key":"ref_5","first-page":"122","article-title":"Association de la polykystose renale et du syndrome oral-facialdigital","volume":"7","author":"Simon, P.; Tanqucral, T.; Toulet, R.; Houitte, H.; Ramcc, M.P.","year":"1978","unstructured":"Simon P, Tanqucral T, Toulet R, Houitte H, Ramcc MP. Association de la polykystose renale et du syndrome oral-facialdigital. Nouv Presse Med 1978;7:122.","journal-title":"Nouv Presse Med"},{"key":"ref_6","first-page":"13","article-title":"Cerebral abnormalities in the oral-facial-digital syndrome","volume":"3","author":"Wood, B.P.; Young, L.W.; Townes, P.L.","year":"1975","unstructured":"Wood BP, Young LW, Townes PL. Cerebral abnormalities in the oral-facial-digital syndrome. Pediatr Radiol 1975;3:13t-6.","journal-title":"Pediatr Radiol"},{"key":"ref_7","first-page":"261","article-title":"The oral-facial-digital syndromes reviewed: the role of computerised axial tomography in management","volume":"37","author":"Jacquemart, C.J.; Trotter, T.L.; Kaplan, A.M.; Beauchamp, R.F.","year":"1980","unstructured":"Jacquemart CJ, Trotter TL, Kaplan AM, Beauchamp RF. The oral-facial-digital syndromes reviewed: the role of computerised axial tomography in management. Ariz Med 1980;37:261-4.","journal-title":"Ariz Med"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.24.2.116","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:42:46Z","timestamp":1760737366000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.24.2.116"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,2]]},"references-count":7,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1987,2,1]]},"published-print":{"date-parts":[[1987,2]]}},"alternative-id":["10.1136\/jmg.24.2.116"],"URL":"https:\/\/doi.org\/10.1136\/jmg.24.2.116","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1987,2]]}}}