Premature Loss of Permanent Teeth in Allgrove (4A) Syndrome in Two Related Families
Identifieur interne : 004C39 ( Main/Merge ); précédent : 004C38; suivant : 004C40Premature Loss of Permanent Teeth in Allgrove (4A) Syndrome in Two Related Families
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.
Url:
PubMed: 23056690
PubMed Central: 3446014
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<author><name sortKey="Razavi, Zahra" sort="Razavi, Zahra" uniqKey="Razavi Z" first="Zahra" last="Razavi">Zahra Razavi</name>
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<author><name sortKey="Taghdiri, Mohammad Mehdi" sort="Taghdiri, Mohammad Mehdi" uniqKey="Taghdiri M" first="Mohammad-Mehdi" last="Taghdiri">Mohammad-Mehdi Taghdiri</name>
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<author><name sortKey="Eghbalian, Fatemeh" sort="Eghbalian, Fatemeh" uniqKey="Eghbalian F" first="Fatemeh" last="Eghbalian">Fatemeh Eghbalian</name>
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<author><name sortKey="Bazzazi, Nooshin" sort="Bazzazi, Nooshin" uniqKey="Bazzazi N" first="Nooshin" last="Bazzazi">Nooshin Bazzazi</name>
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<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>
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<author><name sortKey="Taghdiri, Mohammad Mehdi" sort="Taghdiri, Mohammad Mehdi" uniqKey="Taghdiri M" first="Mohammad-Mehdi" last="Taghdiri">Mohammad-Mehdi Taghdiri</name>
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<author><name sortKey="Eghbalian, Fatemeh" sort="Eghbalian, Fatemeh" uniqKey="Eghbalian F" first="Fatemeh" last="Eghbalian">Fatemeh Eghbalian</name>
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<author><name sortKey="Bazzazi, Nooshin" sort="Bazzazi, Nooshin" uniqKey="Bazzazi N" first="Nooshin" last="Bazzazi">Nooshin Bazzazi</name>
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<series><title level="j">Iranian Journal of Pediatrics</title>
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<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>
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