The use of cone beam computed tomography for the assessment of trichorhinophalangeal syndrome, type I – a case report
Identifieur interne : 002631 ( Pmc/Corpus ); précédent : 002630; suivant : 002632The use of cone beam computed tomography for the assessment of trichorhinophalangeal syndrome, type I – a case report
Auteurs : Ahmed Ghoneima ; Kanwar Sachdeva ; James Hartsfield ; David Weaver ; Katherine KulaSource :
- Journal of orthodontics [ 1465-3125 ] ; 2013.
Abstract
Trichorhinophalangeal syndrome type I is a rare autosomal dominant disorder characterized by cone-shaped epiphysis, sparse fine hair, pear-shaped nose and variable growth retardation. The typical craniofacial features include thin upper lip, elongated philtrum, large outstanding ears, shortened posterior facial height associated with short mandibular ramus and reduced and superiorly deflected posterior cranial base. This report describes a 17-year-old male patient with trichorhinophalangeal syndrome type I and a detailed description of the craniofacial radiographic findings, including the use of cone beam computed tomography images for determination of the airway and temporomandibular joint discrepancies.
Url:
DOI: 10.1179/1465313312Y.0000000032
PubMed: 23524547
PubMed Central: 4801037
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">The use of cone beam computed tomography for the assessment of trichorhinophalangeal syndrome, type I – a case report</title><author><name sortKey="Ghoneima, Ahmed" sort="Ghoneima, Ahmed" uniqKey="Ghoneima A" first="Ahmed" last="Ghoneima">Ahmed Ghoneima</name><affiliation><nlm:aff id="A1">Department of Orthodontics and Oral Facial Genetics, Indiana University School of Dentistry, Indianapolis, IN, USA</nlm:aff></affiliation></author><author><name sortKey="Sachdeva, Kanwar" sort="Sachdeva, Kanwar" uniqKey="Sachdeva K" first="Kanwar" last="Sachdeva">Kanwar Sachdeva</name><affiliation><nlm:aff id="A1">Department of Orthodontics and Oral Facial Genetics, Indiana University School of Dentistry, Indianapolis, IN, USA</nlm:aff></affiliation></author><author><name sortKey="Hartsfield, James" sort="Hartsfield, James" uniqKey="Hartsfield J" first="James" last="Hartsfield">James Hartsfield</name><affiliation><nlm:aff id="A1">Department of Orthodontics and Oral Facial Genetics, Indiana University School of Dentistry, Indianapolis, IN, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Department of Oral Health Science, University of Kentucky College of Dentistry, Lexington, KY, USA</nlm:aff></affiliation></author><author><name sortKey="Weaver, David" sort="Weaver, David" uniqKey="Weaver D" first="David" last="Weaver">David Weaver</name><affiliation><nlm:aff id="A3">Department of Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA</nlm:aff></affiliation></author><author><name sortKey="Kula, Katherine" sort="Kula, Katherine" uniqKey="Kula K" first="Katherine" last="Kula">Katherine Kula</name><affiliation><nlm:aff id="A1">Department of Orthodontics and Oral Facial Genetics, Indiana University School of Dentistry, Indianapolis, IN, USA</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">23524547</idno><idno type="pmc">4801037</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4801037</idno><idno type="RBID">PMC:4801037</idno><idno type="doi">10.1179/1465313312Y.0000000032</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">002631</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002631</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">The use of cone beam computed tomography for the assessment of trichorhinophalangeal syndrome, type I – a case report</title><author><name sortKey="Ghoneima, Ahmed" sort="Ghoneima, Ahmed" uniqKey="Ghoneima A" first="Ahmed" last="Ghoneima">Ahmed Ghoneima</name><affiliation><nlm:aff id="A1">Department of Orthodontics and Oral Facial Genetics, Indiana University School of Dentistry, Indianapolis, IN, USA</nlm:aff></affiliation></author><author><name sortKey="Sachdeva, Kanwar" sort="Sachdeva, Kanwar" uniqKey="Sachdeva K" first="Kanwar" last="Sachdeva">Kanwar Sachdeva</name><affiliation><nlm:aff id="A1">Department of Orthodontics and Oral Facial Genetics, Indiana University School of Dentistry, Indianapolis, IN, USA</nlm:aff></affiliation></author><author><name sortKey="Hartsfield, James" sort="Hartsfield, James" uniqKey="Hartsfield J" first="James" last="Hartsfield">James Hartsfield</name><affiliation><nlm:aff id="A1">Department of Orthodontics and Oral Facial Genetics, Indiana University School of Dentistry, Indianapolis, IN, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Department of Oral Health Science, University of Kentucky College of Dentistry, Lexington, KY, USA</nlm:aff></affiliation></author><author><name sortKey="Weaver, David" sort="Weaver, David" uniqKey="Weaver D" first="David" last="Weaver">David Weaver</name><affiliation><nlm:aff id="A3">Department of Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA</nlm:aff></affiliation></author><author><name sortKey="Kula, Katherine" sort="Kula, Katherine" uniqKey="Kula K" first="Katherine" last="Kula">Katherine Kula</name><affiliation><nlm:aff id="A1">Department of Orthodontics and Oral Facial Genetics, Indiana University School of Dentistry, Indianapolis, IN, USA</nlm:aff></affiliation></author></analytic><series><title level="j">Journal of orthodontics</title><idno type="ISSN">1465-3125</idno><idno type="eISSN">1465-3133</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">Trichorhinophalangeal syndrome type I is a rare autosomal dominant disorder characterized by cone-shaped epiphysis, sparse fine hair, pear-shaped nose and variable growth retardation. The typical craniofacial features include thin upper lip, elongated philtrum, large outstanding ears, shortened posterior facial height associated with short mandibular ramus and reduced and superiorly deflected posterior cranial base. This report describes a 17-year-old male patient with trichorhinophalangeal syndrome type I and a detailed description of the craniofacial radiographic findings, including the use of cone beam computed tomography images for determination of the airway and temporomandibular joint discrepancies.</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>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">100957268</journal-id><journal-id journal-id-type="pubmed-jr-id">21762</journal-id><journal-id journal-id-type="nlm-ta">J Orthod</journal-id><journal-id journal-id-type="iso-abbrev">J Orthod</journal-id><journal-title-group><journal-title>Journal of orthodontics</journal-title></journal-title-group><issn pub-type="ppub">1465-3125</issn><issn pub-type="epub">1465-3133</issn></journal-meta><article-meta><article-id pub-id-type="pmid">23524547</article-id><article-id pub-id-type="pmc">4801037</article-id><article-id pub-id-type="doi">10.1179/1465313312Y.0000000032</article-id><article-id pub-id-type="manuscript">NIHMS768184</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>The use of cone beam computed tomography for the assessment of trichorhinophalangeal syndrome, type I – a case report</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Ghoneima</surname><given-names>Ahmed</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Sachdeva</surname><given-names>Kanwar</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Hartsfield</surname><given-names>James</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Weaver</surname><given-names>David</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Kula</surname><given-names>Katherine</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib></contrib-group><aff id="A1"><label>1</label>Department of Orthodontics and Oral Facial Genetics, Indiana University School of Dentistry, Indianapolis, IN, USA</aff><aff id="A2"><label>2</label>Department of Oral Health Science, University of Kentucky College of Dentistry, Lexington, KY, USA</aff><aff id="A3"><label>3</label>Department of Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA</aff><author-notes><corresp id="FN1">Address for correspondence: A. Ghoneima, Department of Orthodontics & Oral Facial Genetics, Indiana University School of Dentistry, 1121 West Michigan Street, Indianapolis, IN 46202, USA. <email>aghoneim@iupui.edu</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>16</day><month>3</month><year>2016</year></pub-date><pub-date pub-type="ppub"><month>3</month><year>2013</year></pub-date><pub-date pub-type="pmc-release"><day>21</day><month>3</month><year>2016</year></pub-date><volume>40</volume><issue>1</issue><fpage>47</fpage><lpage>52</lpage><pmc-comment>elocation-id from pubmed: 10.1179/1465313312Y.0000000032</pmc-comment>
<abstract><p id="P1">Trichorhinophalangeal syndrome type I is a rare autosomal dominant disorder characterized by cone-shaped epiphysis, sparse fine hair, pear-shaped nose and variable growth retardation. The typical craniofacial features include thin upper lip, elongated philtrum, large outstanding ears, shortened posterior facial height associated with short mandibular ramus and reduced and superiorly deflected posterior cranial base. This report describes a 17-year-old male patient with trichorhinophalangeal syndrome type I and a detailed description of the craniofacial radiographic findings, including the use of cone beam computed tomography images for determination of the airway and temporomandibular joint discrepancies.</p></abstract><kwd-group><kwd>Cone beam computed tomography</kwd><kwd>trichorhinophalangeal syndrome</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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