{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,28]],"date-time":"2025-04-28T04:01:10Z","timestamp":1745812870159,"version":"3.40.4"},"reference-count":7,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:p>Orofaciodigital syndrome (OFDS) is a group of congenital anomalies which affects the face, oral structures and digits. There are nine subtypes with different modes of inheritance. OFDS type I is an X-linked dominant trait with lethality in the vast majority of affected males. We report a case of OFDS type I in an Indian girl at the age of seven who had most of the typical features of OFDS type I and nephrocalcinosis.<\/jats:p>","DOI":"10.1136\/bcr-2012-007733","type":"journal-article","created":{"date-parts":[[2013,2,15]],"date-time":"2013-02-15T05:59:00Z","timestamp":1360907940000},"page":"bcr2012007733","source":"Crossref","is-referenced-by-count":0,"title":["Rare case of orofaciodigital syndrome type I"],"prefix":"10.1136","volume":"2013","author":[{"given":"Abhishek Bahadur","family":"Singh","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manish","family":"Girhotra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Medha","family":"Goel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shilpee","family":"Bhatia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2013,2,14]]},"reference":[{"key":"2025042702002128000_2013.feb14_1.bcr2012007733.1","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1097\/00019605-199304000-00001","article-title":"Oral-facial-digital syndromes","volume":"2","author":"Toriello","year":"1993","journal-title":"Clin Dysmorphol"},{"key":"2025042702002128000_2013.feb14_1.bcr2012007733.2","first-page":"209","article-title":"Une malformation hereditaire de la muqueuse buccale: Brides et freins anormaux","volume":"55","author":"Papillon-L\u00e9age","year":"1954","journal-title":"Rev Stomatol Paris"},{"key":"2025042702002128000_2013.feb14_1.bcr2012007733.3","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(62)80143-7"},{"key":"2025042702002128000_2013.feb14_1.bcr2012007733.4","unstructured":"Kenneth LJ . Smith's recognizable patterns of human malformation. 6th edn. Philadelphia, PA: Elsevier Saunders, 2010:215."},{"key":"2025042702002128000_2013.feb14_1.bcr2012007733.5","unstructured":"Toriello HV Franco B . Orofaciodigital syndrome type I. In: NCBI bookshelf. 2010. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK\/1188\/OrofaciodigitalsyndrometypeI (accessed 10 Feb 2011)."},{"key":"2025042702002128000_2013.feb14_1.bcr2012007733.6","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1056\/NEJM196411192712101","article-title":"Studies of a family with the oral\u2013facial-digital syndrome","volume":"271","author":"Doege","year":"1964","journal-title":"N Engl J Med"},{"key":"2025042702002128000_2013.feb14_1.bcr2012007733.7","doi-asserted-by":"publisher","DOI":"10.1086\/318802"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2012-007733","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T09:00:28Z","timestamp":1745744428000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2012-007733"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,2,14]]},"references-count":7,"alternative-id":["10.1136\/bcr-2012-007733"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2012-007733","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2013,2,14]]}}}