Proximal symphalangism with “coarse” facial appearance, mixed hearing loss, and chronic renal failure: New malformation syndrome?
Identifieur interne : 006C91 ( Istex/Corpus ); précédent : 006C90; suivant : 006C92Proximal symphalangism with “coarse” facial appearance, mixed hearing loss, and chronic renal failure: New malformation syndrome?
Auteurs : Junko Morimoto ; Hidetoshi Kaneoka ; Toshiaki Murata ; Yumi Nakai Sato ; Satoru Ogahara ; Shinichi Hirose ; Setsuya Naito ; Kenji NaritomiSource :
- American Journal of Medical Genetics [ 0148-7299 ] ; 2001-01-22.
Abstract
A 25‐year‐old man is described with short stature, moderate mental retardation, an abnormal facial appearance, a webbed neck, skeletal abnormalities including proximal symphalangism of bilateral second through fifth fingers, mixed hearing loss, and slowly progressive, sclerosing nephropathy. He was large at birth with generalized edema, more pronounced around the jaw, neck and the upper part of the body, but became short with increasing age, and currently measures 143 cm (−4.9 SD). He had intermittent proteinuria and slowly progressive deterioration of the renal function. A biopsy of the left kidney showed global glomerular sclerosis with interstitial fibrosis. He was placed on maintenance peritoneal dialysis at age 17 years, and now on hemodialysis. His skeletal abnormalities included, in addition to proximal symphalangism, stenosis of the cervical canal, scoliosis, brachydactyly of the hands, hypoplastic hip joints, and pes valgus. Other abnormalities noted were a communicating defects of the diaphragm (surgically corrected), bilateral inguinal hernia and cryptorchidism. These clinical manifestations indicate a hitherto undescribed combination of manifestations and nephropathy. © 2001 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/1096-8628(20010122)98:3<269::AID-AJMG1079>3.0.CO;2-1
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Fukuoka, Fukuoka 814‐0180, Japan.</mods:affiliation></affiliation></author><author><name sortKey="Kaneoka, Hidetoshi" sort="Kaneoka, Hidetoshi" uniqKey="Kaneoka H" first="Hidetoshi" last="Kaneoka">Hidetoshi Kaneoka</name><affiliation><mods:affiliation>Fukuoka University Hospital Kidney Center, Fukuoka University School of Medicine, Fukuoka, Japan</mods:affiliation></affiliation></author><author><name sortKey="Murata, Toshiaki" sort="Murata, Toshiaki" uniqKey="Murata T" first="Toshiaki" last="Murata">Toshiaki Murata</name><affiliation><mods:affiliation>Fukuoka University Hospital Kidney Center, Fukuoka University School of Medicine, Fukuoka, Japan</mods:affiliation></affiliation></author><author><name sortKey="Sato, Yumi Nakai" sort="Sato, Yumi Nakai" uniqKey="Sato Y" first="Yumi Nakai" last="Sato">Yumi Nakai Sato</name><affiliation><mods:affiliation>Fukuoka University Hospital Kidney Center, Fukuoka University School of Medicine, Fukuoka, Japan</mods:affiliation></affiliation></author><author><name sortKey="Ogahara, Satoru" sort="Ogahara, Satoru" uniqKey="Ogahara S" first="Satoru" last="Ogahara">Satoru Ogahara</name><affiliation><mods:affiliation>Fukuoka University Hospital Kidney Center, Fukuoka University School of Medicine, Fukuoka, Japan</mods:affiliation></affiliation></author><author><name sortKey="Hirose, Shinichi" sort="Hirose, Shinichi" uniqKey="Hirose S" first="Shinichi" last="Hirose">Shinichi Hirose</name><affiliation><mods:affiliation>Department of Pediatrics, Fukuoka University School of Medicine, Fukuoka, Japan</mods:affiliation></affiliation></author><author><name sortKey="Naito, Setsuya" sort="Naito, Setsuya" uniqKey="Naito S" first="Setsuya" last="Naito">Setsuya Naito</name><affiliation><mods:affiliation>Fukuoka University Hospital Kidney Center, Fukuoka University School of Medicine, Fukuoka, Japan</mods:affiliation></affiliation></author><author><name sortKey="Naritomi, Kenji" sort="Naritomi, Kenji" uniqKey="Naritomi K" first="Kenji" last="Naritomi">Kenji Naritomi</name><affiliation><mods:affiliation>Department of Medical Genetics, University of the Ryukyus School of Medicine, Okinawa, Japan</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="ISSN">0148-7299</idno><idno type="eISSN">1096-8628</idno><imprint><biblScope unit="vol">98</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="269">269</biblScope><biblScope unit="page" to="272">272</biblScope><biblScope unit="page-count">4</biblScope><publisher>John Wiley & Sons, Inc.</publisher><pubPlace>New York</pubPlace><date type="published" when="2001-01-22">2001-01-22</date></imprint><idno type="ISSN">0148-7299</idno></series></biblStruct></sourceDesc><seriesStmt><idno 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He was large at birth with generalized edema, more pronounced around the jaw, neck and the upper part of the body, but became short with increasing age, and currently measures 143 cm (−4.9 SD). He had intermittent proteinuria and slowly progressive deterioration of the renal function. A biopsy of the left kidney showed global glomerular sclerosis with interstitial fibrosis. He was placed on maintenance peritoneal dialysis at age 17 years, and now on hemodialysis. His skeletal abnormalities included, in addition to proximal symphalangism, stenosis of the cervical canal, scoliosis, brachydactyly of the hands, hypoplastic hip joints, and pes valgus. Other abnormalities noted were a communicating defects of the diaphragm (surgically corrected), bilateral inguinal hernia and cryptorchidism. 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He was large at birth with generalized edema, more pronounced around the jaw, neck and the upper part of the body, but became short with increasing age, and currently measures 143 cm (−4.9 SD). He had intermittent proteinuria and slowly progressive deterioration of the renal function. A biopsy of the left kidney showed global glomerular sclerosis with interstitial fibrosis. He was placed on maintenance peritoneal dialysis at age 17 years, and now on hemodialysis. His skeletal abnormalities included, in addition to proximal symphalangism, stenosis of the cervical canal, scoliosis, brachydactyly of the hands, hypoplastic hip joints, and pes valgus. Other abnormalities noted were a communicating defects of the diaphragm (surgically corrected), bilateral inguinal hernia and cryptorchidism. These clinical manifestations indicate a hitherto undescribed combination of manifestations and nephropathy. © 2001 Wiley‐Liss, Inc.</abstract><qualityIndicators><score>3.729</score><pdfVersion>1.2</pdfVersion><pdfPageSize>594 x 792 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>1222</abstractCharCount><pdfWordCount>1701</pdfWordCount><pdfCharCount>11444</pdfCharCount><pdfPageCount>4</pdfPageCount><abstractWordCount>169</abstractWordCount></qualityIndicators><title>Proximal symphalangism with “coarse” facial appearance, mixed hearing loss, and chronic renal failure: New malformation syndrome?</title><genre><json:string>article</json:string></genre><host><title>American Journal of Medical 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type="first">Junko</forename><surname>Morimoto</surname></persName><email>junkom@fukuoka‐u.ac.jp</email><affiliation>Fukuoka University Hospital Kidney Center, Fukuoka University School of Medicine, Fukuoka, Japan<address><country key="JP"></country></address></affiliation><affiliation>Fukuoka University Hospital Kidney Center, 7‐45‐1 Nanakuma, Jonan‐ku, Fukuoka, Fukuoka 814‐0180, Japan.</affiliation></author><author xml:id="author-0001"><persName><forename type="first">Hidetoshi</forename><surname>Kaneoka</surname></persName><affiliation>Fukuoka University Hospital Kidney Center, Fukuoka University School of Medicine, Fukuoka, Japan<address><country key="JP"></country></address></affiliation></author><author xml:id="author-0002"><persName><forename type="first">Toshiaki</forename><surname>Murata</surname></persName><affiliation>Fukuoka University Hospital Kidney Center, Fukuoka University School of Medicine, Fukuoka, Japan<address><country key="JP"></country></address></affiliation></author><author xml:id="author-0003"><persName><forename type="first">Yumi Nakai</forename><surname>Sato</surname></persName><affiliation>Fukuoka University Hospital Kidney Center, Fukuoka University School of Medicine, Fukuoka, Japan<address><country key="JP"></country></address></affiliation></author><author xml:id="author-0004"><persName><forename type="first">Satoru</forename><surname>Ogahara</surname></persName><affiliation>Fukuoka University Hospital Kidney Center, Fukuoka University School of Medicine, Fukuoka, Japan<address><country key="JP"></country></address></affiliation></author><author xml:id="author-0005"><persName><forename type="first">Shinichi</forename><surname>Hirose</surname></persName><affiliation>Department of Pediatrics, Fukuoka University School of Medicine, Fukuoka, Japan<address><country key="JP"></country></address></affiliation></author><author xml:id="author-0006"><persName><forename type="first">Setsuya</forename><surname>Naito</surname></persName><affiliation>Fukuoka University Hospital Kidney Center, Fukuoka University School of Medicine, Fukuoka, Japan<address><country key="JP"></country></address></affiliation></author><author xml:id="author-0007"><persName><forename type="first">Kenji</forename><surname>Naritomi</surname></persName><affiliation>Department of Medical Genetics, University of the Ryukyus School of Medicine, Okinawa, Japan<address><country key="JP"></country></address></affiliation></author><idno type="istex">E7F96142618D5B74369053BA403E80802C8F619B</idno><idno type="DOI">10.1002/1096-8628(20010122)98:3<269::AID-AJMG1079>3.0.CO;2-1</idno><idno type="unit">AJMG1079</idno><idno type="toTypesetVersion">file:AJMG.AJMG1079.pdf</idno></analytic><monogr><title level="j" type="main">American Journal of Medical Genetics</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="pISSN">0148-7299</idno><idno 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He was large at birth with generalized edema, more pronounced around the jaw, neck and the upper part of the body, but became short with increasing age, and currently measures 143 cm (−4.9 SD). He had intermittent proteinuria and slowly progressive deterioration of the renal function. A biopsy of the left kidney showed global glomerular sclerosis with interstitial fibrosis. He was placed on maintenance peritoneal dialysis at age 17 years, and now on hemodialysis. His skeletal abnormalities included, in addition to proximal symphalangism, stenosis of the cervical canal, scoliosis, brachydactyly of the hands, hypoplastic hip joints, and pes valgus. Other abnormalities noted were a communicating defects of the diaphragm (surgically corrected), bilateral inguinal hernia and cryptorchidism. These clinical manifestations indicate a hitherto undescribed combination of manifestations and nephropathy. © 2001 Wiley‐Liss, Inc.</p></abstract><textClass><keywords xml:lang="en"><term xml:id="kwd1">proximal symphalangism</term><term xml:id="kwd2">mixed hearing loss</term><term xml:id="kwd3">end‐stage renal disease</term><term xml:id="kwd4">malformation syndrome</term></keywords><classCode scheme="articleCategory">New Syndrome?: New Syndrome?</classCode><classCode scheme="tocHeading1">New Syndrome?</classCode></textClass><langUsage><language ident="EN"></language></langUsage></profileDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/E7F96142618D5B74369053BA403E80802C8F619B/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>John Wiley & Sons, Inc.</publisherName><publisherLoc>New York</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1096-8628</doi><issn type="print">0148-7299</issn><issn type="electronic">1096-8628</issn><idGroup><id type="product" value="AJMG"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="AMERICAN JOURNAL OF MEDICAL GENETICS">American Journal of Medical Genetics</title><title type="short">Am. 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Syndrome?</title></titleGroup><copyright ownership="publisher">Copyright © 2001 Wiley‐Liss, Inc.</copyright><eventGroup><event type="manuscriptReceived" date="2000-07-13"></event><event type="manuscriptAccepted" date="2000-10-02"></event><event type="firstOnline" date="2001-01-12"></event><event type="publishedOnlineFinalForm" date="2001-01-12"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.3.6 mode:FullText source:FullText result:FullText" date="2010-05-12"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-01-02"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-14"></event></eventGroup><numberingGroup><numbering type="pageFirst">269</numbering><numbering type="pageLast">272</numbering></numberingGroup><correspondenceTo>Fukuoka University Hospital Kidney Center, 7‐45‐1 Nanakuma, Jonan‐ku, Fukuoka, Fukuoka 814‐0180, Japan.</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:AJMG.AJMG1079.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="2"></count><count type="tableTotal" number="0"></count><count type="referenceTotal" number="9"></count><count type="wordTotal" number="1907"></count></countGroup><titleGroup><title type="main" xml:lang="en">Proximal symphalangism with “coarse” facial appearance, mixed hearing loss, and chronic renal failure: New malformation syndrome?</title><title type="short" xml:lang="en">Symphalangism, Hearing Loss and Renal Failure</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Junko</givenNames><familyName>Morimoto</familyName></personName><contactDetails><email normalForm="junkom@fukuoka-u.ac.jp">junkom@fukuoka‐u.ac.jp</email></contactDetails></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Hidetoshi</givenNames><familyName>Kaneoka</familyName></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Toshiaki</givenNames><familyName>Murata</familyName></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Yumi Nakai</givenNames><familyName>Sato</familyName></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Satoru</givenNames><familyName>Ogahara</familyName></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Shinichi</givenNames><familyName>Hirose</familyName></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Setsuya</givenNames><familyName>Naito</familyName></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Kenji</givenNames><familyName>Naritomi</familyName></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="JP" type="organization"><unparsedAffiliation>Fukuoka University Hospital Kidney Center, Fukuoka University School of Medicine, Fukuoka, Japan</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="JP" type="organization"><unparsedAffiliation>Department of Pediatrics, Fukuoka University School of Medicine, Fukuoka, Japan</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="JP" type="organization"><unparsedAffiliation>Department of Medical Genetics, University of the Ryukyus School of Medicine, Okinawa, Japan</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">proximal symphalangism</keyword><keyword xml:id="kwd2">mixed hearing loss</keyword><keyword xml:id="kwd3">end‐stage renal disease</keyword><keyword xml:id="kwd4">malformation syndrome</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>A 25‐year‐old man is described with short stature, moderate mental retardation, an abnormal facial appearance, a webbed neck, skeletal abnormalities including proximal symphalangism of bilateral second through fifth fingers, mixed hearing loss, and slowly progressive, sclerosing nephropathy. He was large at birth with generalized edema, more pronounced around the jaw, neck and the upper part of the body, but became short with increasing age, and currently measures 143 cm (−4.9 SD). He had intermittent proteinuria and slowly progressive deterioration of the renal function. A biopsy of the left kidney showed global glomerular sclerosis with interstitial fibrosis. He was placed on maintenance peritoneal dialysis at age 17 years, and now on hemodialysis. His skeletal abnormalities included, in addition to proximal symphalangism, stenosis of the cervical canal, scoliosis, brachydactyly of the hands, hypoplastic hip joints, and pes valgus. Other abnormalities noted were a communicating defects of the diaphragm (surgically corrected), bilateral inguinal hernia and cryptorchidism. These clinical manifestations indicate a hitherto undescribed combination of manifestations and nephropathy. © 2001 Wiley‐Liss, Inc.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Proximal symphalangism with “coarse” facial appearance, mixed hearing loss, and chronic renal failure: New malformation syndrome?</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Symphalangism, Hearing Loss and Renal Failure</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Proximal symphalangism with “coarse” facial appearance, mixed hearing loss, and chronic renal failure: New malformation syndrome?</title></titleInfo><name type="personal"><namePart type="given">Junko</namePart><namePart type="family">Morimoto</namePart><affiliation>Fukuoka University Hospital Kidney Center, Fukuoka University School of Medicine, Fukuoka, Japan</affiliation><affiliation>Fukuoka University Hospital Kidney Center, 7‐45‐1 Nanakuma, Jonan‐ku, Fukuoka, Fukuoka 814‐0180, Japan.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Hidetoshi</namePart><namePart type="family">Kaneoka</namePart><affiliation>Fukuoka University Hospital Kidney Center, Fukuoka University School of Medicine, Fukuoka, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Toshiaki</namePart><namePart type="family">Murata</namePart><affiliation>Fukuoka University Hospital Kidney Center, Fukuoka University School of Medicine, Fukuoka, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Yumi Nakai</namePart><namePart type="family">Sato</namePart><affiliation>Fukuoka University Hospital Kidney Center, Fukuoka University School of Medicine, Fukuoka, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Satoru</namePart><namePart type="family">Ogahara</namePart><affiliation>Fukuoka University Hospital Kidney Center, Fukuoka University School of Medicine, Fukuoka, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Shinichi</namePart><namePart type="family">Hirose</namePart><affiliation>Department of Pediatrics, Fukuoka University School of Medicine, Fukuoka, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Setsuya</namePart><namePart type="family">Naito</namePart><affiliation>Fukuoka University Hospital Kidney Center, Fukuoka University School of Medicine, Fukuoka, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kenji</namePart><namePart type="family">Naritomi</namePart><affiliation>Department of Medical Genetics, University of the Ryukyus School of Medicine, Okinawa, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>John Wiley & Sons, Inc.</publisher><place><placeTerm type="text">New York</placeTerm></place><dateIssued encoding="w3cdtf">2001-01-22</dateIssued><dateCaptured encoding="w3cdtf">2000-07-13</dateCaptured><dateValid encoding="w3cdtf">2000-10-02</dateValid><copyrightDate encoding="w3cdtf">2001</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">2</extent><extent unit="references">9</extent><extent unit="words">1907</extent></physicalDescription><abstract lang="en">A 25‐year‐old man is described with short stature, moderate mental retardation, an abnormal facial appearance, a webbed neck, skeletal abnormalities including proximal symphalangism of bilateral second through fifth fingers, mixed hearing loss, and slowly progressive, sclerosing nephropathy. He was large at birth with generalized edema, more pronounced around the jaw, neck and the upper part of the body, but became short with increasing age, and currently measures 143 cm (−4.9 SD). He had intermittent proteinuria and slowly progressive deterioration of the renal function. A biopsy of the left kidney showed global glomerular sclerosis with interstitial fibrosis. He was placed on maintenance peritoneal dialysis at age 17 years, and now on hemodialysis. His skeletal abnormalities included, in addition to proximal symphalangism, stenosis of the cervical canal, scoliosis, brachydactyly of the hands, hypoplastic hip joints, and pes valgus. Other abnormalities noted were a communicating defects of the diaphragm (surgically corrected), bilateral inguinal hernia and cryptorchidism. These clinical manifestations indicate a hitherto undescribed combination of manifestations and nephropathy. © 2001 Wiley‐Liss, Inc.</abstract><subject lang="en"><genre>keywords</genre><topic>proximal symphalangism</topic><topic>mixed hearing loss</topic><topic>end‐stage renal disease</topic><topic>malformation syndrome</topic></subject><relatedItem type="host"><titleInfo><title>American Journal of Medical Genetics</title></titleInfo><titleInfo type="abbreviated"><title>Am. J. Med. Genet.</title></titleInfo><genre type="journal">journal</genre><subject><genre>article-category</genre><topic>New Syndrome?: New Syndrome?</topic></subject><identifier type="ISSN">0148-7299</identifier><identifier type="eISSN">1096-8628</identifier><identifier type="DOI">10.1002/(ISSN)1096-8628</identifier><identifier type="PublisherID">AJMG</identifier><part><date>2001</date><detail type="volume"><caption>vol.</caption><number>98</number></detail><detail type="issue"><caption>no.</caption><number>3</number></detail><extent unit="pages"><start>269</start><end>272</end><total>4</total></extent></part></relatedItem><identifier type="istex">E7F96142618D5B74369053BA403E80802C8F619B</identifier><identifier type="DOI">10.1002/1096-8628(20010122)98:3<269::AID-AJMG1079>3.0.CO;2-1</identifier><identifier type="ArticleID">AJMG1079</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2001 Wiley‐Liss, Inc.</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>John Wiley & Sons, Inc.</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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