Premature Loss of Permanent Teeth in Allgrove (4A) Syndrome in Two Related Families
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Auteurs : Zahra Razavi ; Mohammad-Mehdi Taghdiri ; Fatemeh Eghbalian ; Nooshin BazzaziSource :
- Iranian Journal of Pediatrics [ 2008-2142 ] ; 2010.
Abstract
Allgrove syndrome is a rare autosomal recessive condition characterized by adrenal insufficiency, achalasia, alacrima and occasionally autonomic disturbances. Mutations in the AAAS gene, on chromosome 12q13 have been implicated as a cause of this disorder.
We present various manifestations of this syndrome in two related families each with two affected siblings in which several members had symptoms including reduced tear production, mild developmental delay, achalasia, neurological disturbances and also premature loss of permanent teeth in two of them.
The importance of this report is dental involvement (loss of permanent teeth) in Allgrove syndrome that has not been reported in literature.
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PubMed: 23056690
PubMed Central: 3446014
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Zahra Razavi<affiliation><nlm:aff id="AF0001">Department of Pediatrics, Hamadan University of Medical Sciences, IR Iran</nlm:aff><wicri:noCountry code="subfield">IR Iran</wicri:noCountry></affiliation><affiliation><nlm:aff id="AF0001">Department of Pediatrics, Hamadan University of Medical Sciences, IR Iran</nlm:aff><wicri:noCountry code="subfield">IR Iran</wicri:noCountry></affiliation><affiliation><nlm:aff id="AF0001">Department of Pediatrics, Hamadan University of Medical Sciences, IR Iran</nlm:aff><wicri:noCountry code="subfield">IR Iran</wicri:noCountry></affiliation><affiliation><nlm:aff id="AF0002">Department of Ophthalmology, Hamadan University of Medical Sciences, IR Iran</nlm:aff><wicri:noCountry code="subfield">IR Iran</wicri:noCountry></affiliation>Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Premature Loss of Permanent Teeth in Allgrove (4A) Syndrome in Two Related Families</title><author><name sortKey="Razavi, Zahra" sort="Razavi, Zahra" uniqKey="Razavi Z" first="Zahra" last="Razavi">Zahra Razavi</name><affiliation><nlm:aff id="AF0001">Department of Pediatrics, Hamadan University of Medical Sciences, IR Iran</nlm:aff><wicri:noCountry code="subfield">IR Iran</wicri:noCountry></affiliation></author><author><name sortKey="Taghdiri, Mohammad Mehdi" sort="Taghdiri, Mohammad Mehdi" uniqKey="Taghdiri M" first="Mohammad-Mehdi" last="Taghdiri">Mohammad-Mehdi Taghdiri</name><affiliation><nlm:aff id="AF0001">Department of Pediatrics, Hamadan University of Medical Sciences, IR Iran</nlm:aff><wicri:noCountry code="subfield">IR Iran</wicri:noCountry></affiliation></author><author><name sortKey="Eghbalian, Fatemeh" sort="Eghbalian, Fatemeh" uniqKey="Eghbalian F" first="Fatemeh" last="Eghbalian">Fatemeh Eghbalian</name><affiliation><nlm:aff id="AF0001">Department of Pediatrics, Hamadan University of Medical Sciences, IR Iran</nlm:aff><wicri:noCountry code="subfield">IR Iran</wicri:noCountry></affiliation></author><author><name sortKey="Bazzazi, Nooshin" sort="Bazzazi, Nooshin" uniqKey="Bazzazi N" first="Nooshin" last="Bazzazi">Nooshin Bazzazi</name><affiliation><nlm:aff id="AF0002">Department of Ophthalmology, Hamadan University of Medical Sciences, IR Iran</nlm:aff><wicri:noCountry code="subfield">IR Iran</wicri:noCountry></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">23056690</idno><idno type="pmc">3446014</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3446014</idno><idno type="RBID">PMC:3446014</idno><date when="2010">2010</date><idno type="wicri:Area/Pmc/Corpus">001D28</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001D28</idno><idno type="wicri:Area/Pmc/Curation">001D28</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001D28</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Premature Loss of Permanent Teeth in Allgrove (4A) Syndrome in Two Related Families</title><author><name sortKey="Razavi, Zahra" sort="Razavi, Zahra" uniqKey="Razavi Z" first="Zahra" last="Razavi">Zahra Razavi</name><affiliation><nlm:aff id="AF0001">Department of Pediatrics, Hamadan University of Medical Sciences, IR Iran</nlm:aff><wicri:noCountry code="subfield">IR Iran</wicri:noCountry></affiliation></author><author><name sortKey="Taghdiri, Mohammad Mehdi" sort="Taghdiri, Mohammad Mehdi" uniqKey="Taghdiri M" first="Mohammad-Mehdi" last="Taghdiri">Mohammad-Mehdi Taghdiri</name><affiliation><nlm:aff id="AF0001">Department of Pediatrics, Hamadan University of Medical Sciences, IR Iran</nlm:aff><wicri:noCountry code="subfield">IR Iran</wicri:noCountry></affiliation></author><author><name sortKey="Eghbalian, Fatemeh" sort="Eghbalian, Fatemeh" uniqKey="Eghbalian F" first="Fatemeh" last="Eghbalian">Fatemeh Eghbalian</name><affiliation><nlm:aff id="AF0001">Department of Pediatrics, Hamadan University of Medical Sciences, IR Iran</nlm:aff><wicri:noCountry code="subfield">IR Iran</wicri:noCountry></affiliation></author><author><name sortKey="Bazzazi, Nooshin" sort="Bazzazi, Nooshin" uniqKey="Bazzazi N" first="Nooshin" last="Bazzazi">Nooshin Bazzazi</name><affiliation><nlm:aff id="AF0002">Department of Ophthalmology, Hamadan University of Medical Sciences, IR Iran</nlm:aff><wicri:noCountry code="subfield">IR Iran</wicri:noCountry></affiliation></author></analytic><series><title level="j">Iranian Journal of Pediatrics</title><idno type="ISSN">2008-2142</idno><idno type="eISSN">2008-2150</idno><imprint><date when="2010">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec id="st1"><title>Background</title><p>Allgrove syndrome is a rare autosomal recessive condition characterized by adrenal insufficiency, achalasia, alacrima and occasionally autonomic disturbances. Mutations in the AAAS gene, on chromosome 12q13 have been implicated as a cause of this disorder.</p></sec><sec id="st2"><title>Case(s) Presentation</title><p>We present various manifestations of this syndrome in two related families each with two affected siblings in which several members had symptoms including reduced tear production, mild developmental delay, achalasia, neurological disturbances and also premature loss of permanent teeth in two of them.</p></sec><sec id="st3"><title>Conclusion</title><p>The importance of this report is dental involvement (loss of permanent teeth) in Allgrove syndrome that has not been reported in literature.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Allgrove, J" uniqKey="Allgrove J">J Allgrove</name></author><author><name sortKey="Clayden, G" uniqKey="Clayden G">G Clayden</name></author><author><name sortKey="Grant, D" uniqKey="Grant D">D Grant</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Grant, Db" uniqKey="Grant D">DB Grant</name></author><author><name sortKey="Barnes, Nd" uniqKey="Barnes N">ND Barnes</name></author><author><name sortKey="Dumic, M" uniqKey="Dumic M">M Dumic</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Stuckey, Bg" uniqKey="Stuckey B">BG Stuckey</name></author><author><name sortKey="Mastaglia, Fl" uniqKey="Mastaglia F">FL Mastaglia</name></author><author><name sortKey="Reed, Wd" uniqKey="Reed W">WD Reed</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kimber, J" uniqKey="Kimber J">J Kimber</name></author><author><name sortKey="Mclean, Bn" uniqKey="Mclean B">BN McLean</name></author><author><name sortKey="Hammans, Sr" uniqKey="Hammans S">SR Hammans</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Prpic, I" uniqKey="Prpic I">I 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sortKey="Caruso, Rc" uniqKey="Caruso R">RC Caruso</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kurca, E" uniqKey="Kurca E">E Kurca</name></author><author><name sortKey="Grofik, M" uniqKey="Grofik M">M Grofik</name></author><author><name sortKey="Kurca, P" uniqKey="Kurca P">P Kurca</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Deumic, M" uniqKey="Deumic M">M Deumic</name></author><author><name sortKey="Radich, A" uniqKey="Radich A">A Radich</name></author><author><name sortKey="Jusic, A" uniqKey="Jusic A">A Jusic</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Khalifa, Mm" uniqKey="Khalifa M">MM Khalifa</name></author></analytic></biblStruct></listBibl></div1></back></TEI><pmc article-type="case-report"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Iran J Pediatr</journal-id><journal-id journal-id-type="iso-abbrev">Iran J Pediatr</journal-id><journal-id journal-id-type="publisher-id">IJPD</journal-id><journal-title-group><journal-title>Iranian Journal of Pediatrics</journal-title></journal-title-group><issn pub-type="ppub">2008-2142</issn><issn pub-type="epub">2008-2150</issn><publisher><publisher-name>Tehran University of Medical Sciences</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">23056690</article-id><article-id pub-id-type="pmc">3446014</article-id><article-id pub-id-type="publisher-id">IJPD-20-101</article-id><article-categories><subj-group subj-group-type="heading"><subject>Case Report</subject></subj-group></article-categories><title-group><article-title>Premature Loss of Permanent Teeth in Allgrove (4A) Syndrome in Two Related Families</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Razavi</surname><given-names>Zahra</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="AF0001">1</xref><xref ref-type="corresp" rid="cor1">*</xref></contrib><contrib contrib-type="author"><name><surname>Taghdiri</surname><given-names>Mohammad-Mehdi</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="AF0001">1</xref></contrib><contrib contrib-type="author"><name><surname>Eghbalian</surname><given-names>Fatemeh</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="AF0001">1</xref></contrib><contrib contrib-type="author"><name><surname>Bazzazi</surname><given-names>Nooshin</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="AF0002">2</xref></contrib></contrib-group><aff id="AF0001"><label>1</label>Department of Pediatrics, Hamadan University of Medical Sciences, IR Iran</aff><aff id="AF0002"><label>2</label>Department of Ophthalmology, Hamadan University of Medical Sciences, IR Iran</aff><author-notes><corresp id="cor1"><label>*</label><bold>Corresponding Author:</bold><bold>Address:</bold> Be'ssat Hospital, Hamadan, IR Iran <bold>E-mail:</bold><email xlink:href="razavizahra@yahoo.com.au">razavizahra@yahoo.com.au</email></corresp></author-notes><pub-date pub-type="ppub"><month>3</month><year>2010</year></pub-date><volume>20</volume><issue>1</issue><fpage>101</fpage><lpage>106</lpage><history><date date-type="received"><day>07</day><month>2</month><year>2009</year></date><date date-type="rev-recd"><day>27</day><month>4</month><year>2009</year></date><date date-type="accepted"><day>06</day><month>5</month><year>2009</year></date></history><permissions><copyright-statement>© 2010 Iranian Journal of Pediatrics & Tehran University of Medical Sciences</copyright-statement><copyright-year>2010</copyright-year><license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by-nc/3.0/"><license-p>This is an open-access article distributed under the terms of the Creative Commons Attribution NonCommercial 3.0 License (CC BY-NC 3.0), which allows users to read, copy, distribute and make derivative works for non-commercial purposes from the material, as long as the author of the original work is cited properly.</license-p></license></permissions><abstract><sec id="st1"><title>Background</title><p>Allgrove syndrome is a rare autosomal recessive condition characterized by adrenal insufficiency, achalasia, alacrima and occasionally autonomic disturbances. Mutations in the AAAS gene, on chromosome 12q13 have been implicated as a cause of this disorder.</p></sec><sec id="st2"><title>Case(s) Presentation</title><p>We present various manifestations of this syndrome in two related families each with two affected siblings in which several members had symptoms including reduced tear production, mild developmental delay, achalasia, neurological disturbances and also premature loss of permanent teeth in two of them.</p></sec><sec id="st3"><title>Conclusion</title><p>The importance of this report is dental involvement (loss of permanent teeth) in Allgrove syndrome that has not been reported in literature.</p></sec></abstract><kwd-group><kwd>achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A) protein, human</kwd><kwd>AAAS protein, human</kwd><kwd>Teeth</kwd><kwd>Allgrove syndrome</kwd><kwd>Triple A syndrome protein, human</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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