Facial anomalies in D‐2‐hydroxyglutaric aciduria
Identifieur interne : 000905 ( Istex/Corpus ); précédent : 000904; suivant : 000906Facial anomalies in D‐2‐hydroxyglutaric aciduria
Auteurs : Jeanne Amiel ; Pascale De Lonlay ; Christine Francannet ; Alain Picard ; Henri Bruel ; Daniel Rabier ; Martine Le Merrer ; Nanda Verhoeven ; Cornelis Jakobs ; Stanislas Lyonnet ; Arnold MunnichSource :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1999-09-10.
English descriptors
Abstract
D‐2‐hydroxyglutaric aciduria is a rare autosomal recessive organic aciduria with variable clinical expression. The biochemical defect is still unknown, and genetic heterogeneity has been suggested. Here, we report on facial anomalies in two unrelated cases of D‐2‐hydroxyglutaric aciduria presenting with epileptic encephalopathy. In a review, we found that minor facial anomalies have been mentioned in three patients. A flat face with a broad nasal bridge and external ear anomalies were present in our patients and in reported cases. We suggest giving consideration to D‐2‐hydroxyglutaric aciduria as a cause of minor facial anomalies in epileptic encephalopathy of unknown origin. Am. J. Med. Genet. 86:124–129, 1999. © 1999 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/(SICI)1096-8628(19990910)86:2<124::AID-AJMG7>3.0.CO;2-Q
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ISTEX:9A5E69A1C50272FA663E7D274497FDEFEE1931F1Le document en format XML
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The biochemical defect is still unknown, and genetic heterogeneity has been suggested. Here, we report on facial anomalies in two unrelated cases of D‐2‐hydroxyglutaric aciduria presenting with epileptic encephalopathy. In a review, we found that minor facial anomalies have been mentioned in three patients. A flat face with a broad nasal bridge and external ear anomalies were present in our patients and in reported cases. We suggest giving consideration to D‐2‐hydroxyglutaric aciduria as a cause of minor facial anomalies in epileptic encephalopathy of unknown origin. Am. J. Med. 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type="figureTotal" number="3"></count><count type="tableTotal" number="1"></count><count type="referenceTotal" number="12"></count><count type="wordTotal" number="1588"></count></countGroup><titleGroup><title type="main" xml:lang="en">Facial anomalies in <sc>D</sc>‐2‐hydroxyglutaric aciduria</title><title type="short" xml:lang="en">Syndromal <sc>D</sc>‐2‐Hydroxyglutaric Aciduria</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Jeanne</givenNames><familyName>Amiel</familyName></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Pascale</givenNames><familyName>de Lonlay</familyName></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Christine</givenNames><familyName>Francannet</familyName></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Alain</givenNames><familyName>Picard</familyName></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Henri</givenNames><familyName>Bruel</familyName></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af6"><personName><givenNames>Daniel</givenNames><familyName>Rabier</familyName></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Martine</givenNames><familyName>Le Merrer</familyName></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af7"><personName><givenNames>Nanda</givenNames><familyName>Verhoeven</familyName></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af7"><personName><givenNames>Cornelis</givenNames><familyName>Jakobs</familyName></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Stanislas</givenNames><familyName>Lyonnet</familyName></personName></creator><creator xml:id="au11" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Arnold</givenNames><familyName>Munnich</familyName></personName><contactDetails><email>munnich@necker.fr</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="FR" type="organization"><unparsedAffiliation>Département de Génétique Médicale, Hôpital Necker‐Enfants Malades, Paris, France</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="FR" type="organization"><unparsedAffiliation>Service de Metabolisme, Hôpital Neckar‐Enfants Malades, Paris, France</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="FR" type="organization"><unparsedAffiliation>Département de Génétique Médicale, Centre Hospitalier Universitaire de Clermont‐Ferrand, Clermont‐Ferrand, France</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="FR" type="organization"><unparsedAffiliation>Département de Génétique Médicale, Service de Pédiatrie et de Médecine Néonatale, Centre Hospitalier Intercommunal de Poissy, Poissy, France</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="FR" type="organization"><unparsedAffiliation>Département de Génétique Médicale, Médecine Néonatale, Hôpital Flaubert, Centre Hospitalier Général du Havre, Le Havre, France</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="FR" type="organization"><unparsedAffiliation>Service de Biochimie, Hôpital Necker‐Enfants Malades, Paris, France</unparsedAffiliation></affiliation><affiliation xml:id="af7" countryCode="NL" type="organization"><unparsedAffiliation>Department of Pediatrics, Free University Hospital, Amsterdam, The Netherlands</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1"><sc>D</sc>‐2‐hydroxyglutaric aciduria</keyword><keyword xml:id="kwd2">epileptic encephalopathy</keyword><keyword xml:id="kwd3">facial anomalies</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p><sc>D</sc>‐2‐hydroxyglutaric aciduria is a rare autosomal recessive organic aciduria with variable clinical expression. The biochemical defect is still unknown, and genetic heterogeneity has been suggested. Here, we report on facial anomalies in two unrelated cases of <sc>D</sc>‐2‐hydroxyglutaric aciduria presenting with epileptic encephalopathy. In a review, we found that minor facial anomalies have been mentioned in three patients. A flat face with a broad nasal bridge and external ear anomalies were present in our patients and in reported cases. We suggest giving consideration to <sc>D</sc>‐2‐hydroxyglutaric aciduria as a cause of minor facial anomalies in epileptic encephalopathy of unknown origin. Am. J. Med. Genet. 86:124–129, 1999. © 1999 Wiley‐Liss, Inc.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Facial anomalies in D‐2‐hydroxyglutaric aciduria</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Syndromal D‐2‐Hydroxyglutaric Aciduria</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Facial anomalies in D‐2‐hydroxyglutaric aciduria</title></titleInfo><name type="personal"><namePart type="given">Jeanne</namePart><namePart type="family">Amiel</namePart><affiliation>Département de Génétique Médicale, Hôpital Necker‐Enfants Malades, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Pascale</namePart><namePart type="family">de Lonlay</namePart><affiliation>Service de Metabolisme, Hôpital Neckar‐Enfants Malades, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Christine</namePart><namePart type="family">Francannet</namePart><affiliation>Département de Génétique Médicale, Centre Hospitalier Universitaire de Clermont‐Ferrand, Clermont‐Ferrand, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alain</namePart><namePart type="family">Picard</namePart><affiliation>Département de Génétique Médicale, Service de Pédiatrie et de Médecine Néonatale, Centre Hospitalier Intercommunal de Poissy, Poissy, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Henri</namePart><namePart type="family">Bruel</namePart><affiliation>Département de Génétique Médicale, Médecine Néonatale, Hôpital Flaubert, Centre Hospitalier Général du Havre, Le Havre, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Daniel</namePart><namePart type="family">Rabier</namePart><affiliation>Service de Biochimie, Hôpital Necker‐Enfants Malades, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Martine</namePart><namePart type="family">Le Merrer</namePart><affiliation>Département de Génétique Médicale, Hôpital Necker‐Enfants Malades, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Nanda</namePart><namePart type="family">Verhoeven</namePart><affiliation>Department of Pediatrics, Free University Hospital, Amsterdam, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Cornelis</namePart><namePart type="family">Jakobs</namePart><affiliation>Department of Pediatrics, Free University Hospital, Amsterdam, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Stanislas</namePart><namePart type="family">Lyonnet</namePart><affiliation>Département de Génétique Médicale, Hôpital Necker‐Enfants Malades, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Arnold</namePart><namePart type="family">Munnich</namePart><affiliation>Département de Génétique Médicale, Hôpital Necker‐Enfants Malades, Paris, France</affiliation><affiliation>Département de Génétique Médicale, Hôpital Necker‐Enfants Malades, 149 rue de Sèvres, 75743 Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">New York</placeTerm></place><dateIssued encoding="w3cdtf">1999-09-10</dateIssued><dateCaptured encoding="w3cdtf">1998-10-28</dateCaptured><dateValid encoding="w3cdtf">1999-04-13</dateValid><copyrightDate encoding="w3cdtf">1999</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">3</extent><extent unit="tables">1</extent><extent unit="references">12</extent><extent unit="words">1588</extent></physicalDescription><abstract lang="en">D‐2‐hydroxyglutaric aciduria is a rare autosomal recessive organic aciduria with variable clinical expression. The biochemical defect is still unknown, and genetic heterogeneity has been suggested. Here, we report on facial anomalies in two unrelated cases of D‐2‐hydroxyglutaric aciduria presenting with epileptic encephalopathy. In a review, we found that minor facial anomalies have been mentioned in three patients. A flat face with a broad nasal bridge and external ear anomalies were present in our patients and in reported cases. We suggest giving consideration to D‐2‐hydroxyglutaric aciduria as a cause of minor facial anomalies in epileptic encephalopathy of unknown origin. Am. J. Med. Genet. 86:124–129, 1999. © 1999 Wiley‐Liss, Inc.</abstract><subject lang="en"><genre>keywords</genre><topic>D‐2‐hydroxyglutaric aciduria</topic><topic>epileptic encephalopathy</topic><topic>facial anomalies</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><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>1999</date><detail type="volume"><caption>vol.</caption><number>86</number></detail><detail type="issue"><caption>no.</caption><number>2</number></detail><extent unit="pages"><start>124</start><end>129</end><total>6</total></extent></part></relatedItem><identifier type="istex">9A5E69A1C50272FA663E7D274497FDEFEE1931F1</identifier><identifier type="DOI">10.1002/(SICI)1096-8628(19990910)86:2<124::AID-AJMG7>3.0.CO;2-Q</identifier><identifier type="ArticleID">AJMG7</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 1999 Wiley‐Liss, Inc.</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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