Oculofaciocardiodental (OFCD) Syndrome: a Rare Case and Review of the Literature
Identifieur interne : 002757 ( Pmc/Curation ); précédent : 002756; suivant : 002758Oculofaciocardiodental (OFCD) Syndrome: a Rare Case and Review of the Literature
Auteurs : Amirparviz Davoody [États-Unis] ; I-Ping Chen [États-Unis] ; Ravindra Nanda [États-Unis] ; Flavio Uribe [États-Unis] ; Ernst J. Reichenberger [États-Unis]Source :
- The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association [ 1055-6656 ] ; 2011.
Abstract
Oculofaciocardiodental syndrome (OFCD) is a rare genetic disorder affecting ocular, facial, dental and cardiac systems. The clinical diagnosis of OFCD can be challenging due to a wide variety of symptoms. OFCD is found only in females due to its X-linked inheritance pattern and embryonic lethality for males. Radiculomegaly of canines is the most consistent finding in these patients. In this report we present a female patient with characteristic facial features and a comprehensive overview of OFCD. Diagnosis of OFCD in this patient was verified by genetic analysis, during which we found a novel mutation in BCOR.
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DOI: 10.1597/10-256
PubMed: 21740180
PubMed Central: 3354011
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The clinical diagnosis of OFCD can be challenging due to a wide variety of symptoms. OFCD is found only in females due to its X-linked inheritance pattern and embryonic lethality for males. Radiculomegaly of canines is the most consistent finding in these patients. In this report we present a female patient with characteristic facial features and a comprehensive overview of OFCD. Diagnosis of OFCD in this patient was verified by genetic analysis, during which we found a novel mutation in BCOR.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
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<front><journal-meta><journal-id journal-id-type="nlm-journal-id">9102566</journal-id><journal-id journal-id-type="pubmed-jr-id">1035</journal-id><journal-id journal-id-type="nlm-ta">Cleft Palate Craniofac J</journal-id><journal-id journal-id-type="iso-abbrev">Cleft Palate Craniofac. J.</journal-id><journal-title-group><journal-title>The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association</journal-title></journal-title-group><issn pub-type="ppub">1055-6656</issn><issn pub-type="epub">1545-1569</issn></journal-meta><article-meta><article-id pub-id-type="pmid">21740180</article-id><article-id pub-id-type="pmc">3354011</article-id><article-id pub-id-type="doi">10.1597/10-256</article-id><article-id pub-id-type="manuscript">NIHMS353499</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Oculofaciocardiodental (OFCD) Syndrome: a Rare Case and Review of the Literature</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Davoody</surname><given-names>Amirparviz</given-names></name><degrees>DDS</degrees><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Chen</surname><given-names>I-Ping</given-names></name><degrees>DDS, PhD</degrees><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Nanda</surname><given-names>Ravindra</given-names></name><degrees>MDS, PhD</degrees><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Uribe</surname><given-names>Flavio</given-names></name><degrees>DDS, MDS</degrees><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Reichenberger</surname><given-names>Ernst J.</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A2">2</xref><xref rid="FN1" ref-type="author-notes">*</xref></contrib></contrib-group><aff id="A1"><label>1</label>University of Connecticut Health Center, Department of Craniofacial Sciences, Division of Orthodontics, Farmington, CT</aff><aff id="A2"><label>2</label>University of Connecticut Health Center, Department of Oral Health and Diagnostic Science, Center for Regenerative Medicine and Skeletal Development, Farmington, CT</aff><aff id="A3"><label>3</label>University of Connecticut Health Center, Department of Reconstructive Sciences, Center for Regenerative Medicine and Skeletal Development, Farmington, CT</aff><author-notes><corresp id="FN1"><label>*</label>Corresponding Author: Ernst Reichenberger, PhD, University of Connecticut Health Center (UCHC), Center for Restorative Medicine and Skeletal Development, Department of Reconstructive Sciences, 263 Farmington Avenue, Farmington, CT 06030-3705, Tel: 860-679-2062, Fax: 860-679-2910, <email>reichenberger@uchc.edu</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>9</day><month>2</month><year>2012</year></pub-date><pub-date pub-type="epub"><day>08</day><month>7</month><year>2011</year></pub-date><pub-date pub-type="ppub"><month>9</month><year>2012</year></pub-date><pub-date pub-type="pmc-release"><day>04</day><month>10</month><year>2012</year></pub-date><volume>49</volume><issue>5</issue><fpage>e55</fpage><lpage>e60</lpage><abstract><p id="P1">Oculofaciocardiodental syndrome (OFCD) is a rare genetic disorder affecting ocular, facial, dental and cardiac systems. The clinical diagnosis of OFCD can be challenging due to a wide variety of symptoms. OFCD is found only in females due to its X-linked inheritance pattern and embryonic lethality for males. Radiculomegaly of canines is the most consistent finding in these patients. In this report we present a female patient with characteristic facial features and a comprehensive overview of OFCD. Diagnosis of OFCD in this patient was verified by genetic analysis, during which we found a novel mutation in BCOR.</p></abstract><kwd-group><kwd>oculofaciocardiodental syndrome</kwd><kwd>OFCD</kwd><kwd>BCOR</kwd><kwd>mutation analysis</kwd></kwd-group><funding-group><award-group><funding-source country="United States">National Center for Research Resources : NCRR</funding-source><award-id>M01 RR006192-15 || RR</award-id></award-group></funding-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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