Protein-losing gastroenteropathy with facial anomaly and growth retardation: a mild case of Hennekam syndrome.
Identifieur interne : 00B604 ( Ncbi/Checkpoint ); précédent : 00B603; suivant : 00B605Protein-losing gastroenteropathy with facial anomaly and growth retardation: a mild case of Hennekam syndrome.
Auteurs : M. Yasunaga [Japon] ; C. Yamanaka ; M. Mayumi ; T. Momoi ; H. MikawaSource :
- American journal of medical genetics [ 0148-7299 ] ; 1993.
Descripteurs français
- KwdFr :
- Albumines (usage thérapeutique), Enfant, Entéropathie exsudative (diétothérapie), Entéropathie exsudative (génétique), Face (malformations), Femelle, Humains, Mâle, Pedigree, Protéines alimentaires (administration et posologie), Protéines du sang (métabolisme), Syndrome, Troubles de la croissance (génétique).
- MESH :
- administration et posologie : Protéines alimentaires.
- diétothérapie : Entéropathie exsudative.
- génétique : Entéropathie exsudative, Troubles de la croissance.
- malformations : Face.
- métabolisme : Protéines du sang.
- usage thérapeutique : Albumines.
- Enfant, Femelle, Humains, Mâle, Pedigree, Syndrome.
English descriptors
- KwdEn :
- MESH :
- chemical , administration & dosage : Dietary Proteins.
- chemical , metabolism : Blood Proteins.
- chemical , therapeutic use : Albumins.
- abnormalities : Face.
- diet therapy : Protein-Losing Enteropathies.
- genetics : Growth Disorders, Protein-Losing Enteropathies.
- Child, Female, Humans, Male, Pedigree, Syndrome.
Abstract
A 7-year-old boy with a peculiar face, protein-losing gastroenteropathy and growth retardation is reported. Although he has a face similar to those 5 cases reported previously by Hennekam et al. (Am J Med Genet 34:593-600, 1989) and Gabrielli et al. (Am J Med Genet 40:244-247, 1991), he is not mentally retarded nor does he have severe lymphedema. This patient seems to have a mild case of the Hennekam syndrome.
DOI: 10.1002/ajmg.1320450417
PubMed: 8465855
Affiliations:
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Mayumi</name></author><author><name sortKey="Momoi, T" sort="Momoi, T" uniqKey="Momoi T" first="T" last="Momoi">T. Momoi</name></author><author><name sortKey="Mikawa, H" sort="Mikawa, H" uniqKey="Mikawa H" first="H" last="Mikawa">H. 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Mikawa</name></author></analytic><series><title level="j">American journal of medical genetics</title><idno type="ISSN">0148-7299</idno><imprint><date when="1993" type="published">1993</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Albumins (therapeutic use)</term><term>Blood Proteins (metabolism)</term><term>Child</term><term>Dietary Proteins (administration & dosage)</term><term>Face (abnormalities)</term><term>Female</term><term>Growth Disorders (genetics)</term><term>Humans</term><term>Male</term><term>Pedigree</term><term>Protein-Losing Enteropathies (diet therapy)</term><term>Protein-Losing Enteropathies (genetics)</term><term>Syndrome</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Albumines (usage thérapeutique)</term><term>Enfant</term><term>Entéropathie exsudative (diétothérapie)</term><term>Entéropathie exsudative (génétique)</term><term>Face (malformations)</term><term>Femelle</term><term>Humains</term><term>Mâle</term><term>Pedigree</term><term>Protéines alimentaires (administration et posologie)</term><term>Protéines du sang (métabolisme)</term><term>Syndrome</term><term>Troubles de la croissance (génétique)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="administration & dosage" xml:lang="en"><term>Dietary Proteins</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Blood Proteins</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Albumins</term></keywords><keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Face</term></keywords><keywords scheme="MESH" qualifier="administration et posologie" xml:lang="fr"><term>Protéines alimentaires</term></keywords><keywords scheme="MESH" qualifier="diet therapy" xml:lang="en"><term>Protein-Losing Enteropathies</term></keywords><keywords scheme="MESH" qualifier="diétothérapie" xml:lang="fr"><term>Entéropathie exsudative</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Growth Disorders</term><term>Protein-Losing Enteropathies</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Entéropathie exsudative</term><term>Troubles de la croissance</term></keywords><keywords scheme="MESH" qualifier="malformations" xml:lang="fr"><term>Face</term></keywords><keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Protéines du sang</term></keywords><keywords scheme="MESH" qualifier="usage thérapeutique" xml:lang="fr"><term>Albumines</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Child</term><term>Female</term><term>Humans</term><term>Male</term><term>Pedigree</term><term>Syndrome</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Enfant</term><term>Femelle</term><term>Humains</term><term>Mâle</term><term>Pedigree</term><term>Syndrome</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">A 7-year-old boy with a peculiar face, protein-losing gastroenteropathy and growth retardation is reported. Although he has a face similar to those 5 cases reported previously by Hennekam et al. (Am J Med Genet 34:593-600, 1989) and Gabrielli et al. (Am J Med Genet 40:244-247, 1991), he is not mentally retarded nor does he have severe lymphedema. This patient seems to have a mild case of the Hennekam syndrome.</div></front></TEI><affiliations><list><country><li>Japon</li></country></list><tree><noCountry><name sortKey="Mayumi, M" sort="Mayumi, M" uniqKey="Mayumi M" first="M" last="Mayumi">M. Mayumi</name><name sortKey="Mikawa, H" sort="Mikawa, H" uniqKey="Mikawa H" first="H" last="Mikawa">H. Mikawa</name><name sortKey="Momoi, T" sort="Momoi, T" uniqKey="Momoi T" first="T" last="Momoi">T. Momoi</name><name sortKey="Yamanaka, C" sort="Yamanaka, C" uniqKey="Yamanaka C" first="C" last="Yamanaka">C. Yamanaka</name></noCountry><country name="Japon"><noRegion><name sortKey="Yasunaga, M" sort="Yasunaga, M" uniqKey="Yasunaga M" first="M" last="Yasunaga">M. 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