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The Noonan syndrome/cherubism association

Identifieur interne : 007652 ( Istex/Corpus ); précédent : 007651; suivant : 007653

The Noonan syndrome/cherubism association

Auteurs : Charles Dunlap ; Brad Neville ; Robert A. Vickers ; Durl O'Neil ; Bruce Barker

Source :

RBID : ISTEX:FC29985841847D20DE47A72CADCB1F225ECA9F8A

Abstract

Noonan syndrome is characterized by short stature, unusual facies, congenital heart disease, chest deformity, mild mental retardation, and cryptorchidism in males. It may be sporadic or inherited as an autosomal dominant trait and occurs between 1 in 1000 and in 1 2500 live births. Cherubism is a giant cell lesion of the jaws thought to be transmitted as an autosomal dominant trait. It is usually recognized by age 7 years, follows a variable course, and is not known to be related to other genetic disorders. We herein report on four patients with Noonan syndrome, all of whom had cherubism. Two other probable cases are cited in the literature for a total of six known cases.

Url:
DOI: 10.1016/0030-4220(89)90012-1

Links to Exploration step

ISTEX:FC29985841847D20DE47A72CADCB1F225ECA9F8A

Le document en format XML

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<description>Division of Oral Pathology, College of Dental Medicine, Medical University of South Carolina, Charleston, South Carolina.</description>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Robert A.</namePart>
<namePart type="family">Vickers</namePart>
<namePart type="termsOfAddress">Dds</namePart>
<affiliation>University of Missouri at Kansas City, Medical University of South Carolina, and the University of Minnesota, Minneapolis, Minn., USA</affiliation>
<description>Division of Oral Pathology, University of Minnesota School of Dentistry, Minneapolis, Minnesota.</description>
<role>
<roleTerm type="text">author</roleTerm>
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</name>
<name type="personal">
<namePart type="given">Durl</namePart>
<namePart type="family">O'Neil</namePart>
<namePart type="termsOfAddress">Dds</namePart>
<affiliation>University of Missouri at Kansas City, Medical University of South Carolina, and the University of Minnesota, Minneapolis, Minn., USA</affiliation>
<description>Department of Pediatric Dentistry, University of Missouri at Kansas City, School of Dentistry, Kansas City, Missouri.</description>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Bruce</namePart>
<namePart type="family">Barker</namePart>
<namePart type="termsOfAddress">Dds</namePart>
<affiliation>University of Missouri at Kansas City, Medical University of South Carolina, and the University of Minnesota, Minneapolis, Minn., USA</affiliation>
<description>Department of Oral Pathology, University of Missouri at Kansas City, School of Dentistry, Kansas City, Missouri.</description>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
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<copyrightDate encoding="w3cdtf">1989</copyrightDate>
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<languageTerm type="code" authority="iso639-2b">eng</languageTerm>
<languageTerm type="code" authority="rfc3066">en</languageTerm>
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<abstract lang="en">Noonan syndrome is characterized by short stature, unusual facies, congenital heart disease, chest deformity, mild mental retardation, and cryptorchidism in males. It may be sporadic or inherited as an autosomal dominant trait and occurs between 1 in 1000 and in 1 2500 live births. Cherubism is a giant cell lesion of the jaws thought to be transmitted as an autosomal dominant trait. It is usually recognized by age 7 years, follows a variable course, and is not known to be related to other genetic disorders. We herein report on four patients with Noonan syndrome, all of whom had cherubism. Two other probable cases are cited in the literature for a total of six known cases.</abstract>
<subject>
<genre>article-category</genre>
<topic>Oral pathology</topic>
</subject>
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<titleInfo>
<title>Oral Surgery, Oral Medicine, Oral Pathology</title>
</titleInfo>
<titleInfo type="abbreviated">
<title>OSOMOP</title>
</titleInfo>
<genre type="journal">journal</genre>
<originInfo>
<dateIssued encoding="w3cdtf">198906</dateIssued>
</originInfo>
<identifier type="ISSN">0030-4220</identifier>
<identifier type="PII">S0030-4220(00)X0002-3</identifier>
<part>
<date>198906</date>
<detail type="volume">
<number>67</number>
<caption>vol.</caption>
</detail>
<detail type="issue">
<number>6</number>
<caption>no.</caption>
</detail>
<extent unit="issue pages">
<start>635</start>
<end>802</end>
</extent>
<extent unit="pages">
<start>698</start>
<end>705</end>
</extent>
</part>
</relatedItem>
<identifier type="istex">FC29985841847D20DE47A72CADCB1F225ECA9F8A</identifier>
<identifier type="DOI">10.1016/0030-4220(89)90012-1</identifier>
<identifier type="PII">0030-4220(89)90012-1</identifier>
<recordInfo>
<recordContentSource>ELSEVIER</recordContentSource>
</recordInfo>
</mods>
</metadata>
<serie></serie>
</istex>
</record>

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