Protein-losing gastroenteropathy with facial anomaly and growth retardation: a mild case of Hennekam syndrome.
Identifieur interne : 005776 ( PubMed/Corpus ); précédent : 005775; suivant : 005777Protein-losing gastroenteropathy with facial anomaly and growth retardation: a mild case of Hennekam syndrome.
Auteurs : M. Yasunaga ; C. Yamanaka ; M. Mayumi ; T. Momoi ; H. MikawaSource :
- American journal of medical genetics [ 0148-7299 ] ; 1993.
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
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Yamanaka</name></author><author><name sortKey="Mayumi, M" sort="Mayumi, M" uniqKey="Mayumi M" first="M" last="Mayumi">M. 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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