Facial anomalies in D‐2‐hydroxyglutaric aciduria
Identifieur interne : 001B00 ( Main/Exploration ); précédent : 001A99; suivant : 001B01Facial anomalies in D‐2‐hydroxyglutaric aciduria
Auteurs : Jeanne Amiel [France] ; Pascale De Lonlay [France] ; Christine Francannet [France] ; Alain Picard [France] ; Henri Bruel [France] ; Daniel Rabier [France] ; Martine Le Merrer [France] ; Nanda Verhoeven [Pays-Bas] ; Cornelis Jakobs [Pays-Bas] ; Stanislas Lyonnet [France] ; Arnold Munnich [France]Source :
- 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
Affiliations:
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type="city">Paris</settlement></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">American Journal of Medical Genetics</title><title level="j" type="abbrev">Am. J. Med. Genet.</title><idno type="ISSN">0148-7299</idno><idno type="eISSN">1096-8628</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1999-09-10">1999-09-10</date><biblScope unit="volume">86</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="124">124</biblScope><biblScope unit="page" to="129">129</biblScope></imprint><idno type="ISSN">0148-7299</idno></series><idno type="istex">9A5E69A1C50272FA663E7D274497FDEFEE1931F1</idno><idno type="DOI">10.1002/(SICI)1096-8628(19990910)86:2<124::AID-AJMG7>3.0.CO;2-Q</idno><idno type="ArticleID">AJMG7</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0148-7299</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>D‐2‐hydroxyglutaric aciduria</term><term>epileptic encephalopathy</term><term>facial anomalies</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml: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.</div></front></TEI><affiliations><list><country><li>France</li><li>Pays-Bas</li></country><region><li>Hollande-Septentrionale</li><li>Île-de-France</li></region><settlement><li>Amsterdam</li><li>Le Havre</li><li>Paris</li></settlement></list><tree><country name="France"><noRegion><name sortKey="Amiel, Jeanne" sort="Amiel, Jeanne" uniqKey="Amiel J" first="Jeanne" last="Amiel">Jeanne Amiel</name></noRegion><name sortKey="Bruel, Henri" sort="Bruel, Henri" uniqKey="Bruel H" first="Henri" last="Bruel">Henri Bruel</name><name sortKey="De Lonlay, Pascale" sort="De Lonlay, Pascale" uniqKey="De Lonlay P" first="Pascale" last="De Lonlay">Pascale De Lonlay</name><name sortKey="Francannet, Christine" sort="Francannet, Christine" uniqKey="Francannet C" first="Christine" last="Francannet">Christine Francannet</name><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name><name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name><name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name><name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name><name sortKey="Picard, Alain" sort="Picard, Alain" uniqKey="Picard A" first="Alain" last="Picard">Alain Picard</name><name sortKey="Rabier, Daniel" sort="Rabier, Daniel" uniqKey="Rabier D" first="Daniel" last="Rabier">Daniel Rabier</name></country><country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Verhoeven, Nanda" sort="Verhoeven, Nanda" uniqKey="Verhoeven N" first="Nanda" last="Verhoeven">Nanda Verhoeven</name></region><name sortKey="Jakobs, Cornelis" sort="Jakobs, Cornelis" uniqKey="Jakobs C" first="Cornelis" last="Jakobs">Cornelis Jakobs</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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