Expansion of the phenotype in Hennekam syndrome: a case with new manifestations.
Identifieur interne : 004F76 ( PubMed/Corpus ); précédent : 004F75; suivant : 004F77Expansion of the phenotype in Hennekam syndrome: a case with new manifestations.
Auteurs : B. Angle ; J H HershSource :
- American journal of medical genetics [ 0148-7299 ] ; 1997.
English descriptors
- KwdEn :
- Abnormalities, Multiple (genetics), Craniofacial Abnormalities (genetics), Female, Genes, Recessive, Humans, Infant, Newborn, Intellectual Disability (genetics), Lymphangiectasis, Intestinal (congenital), Lymphangiectasis, Intestinal (genetics), Lymphedema (congenital), Lymphedema (genetics), Phenotype, Syndrome.
- MESH :
Abstract
We report on a female with lymphedema, facial anomalies, intestinal lymphangiectasia, and moderate mental retardation consistent with the diagnosis of Hennekam syndrome. In addition, she had a number of other anomalies not previously described in this autosomal recessive disorder, including a congenital heart defect, atretic ear canals, vesicoureteral reflux, and rectal prolapse.
PubMed: 9217224
Links to Exploration step
pubmed:9217224Le document en format XML
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<author><name sortKey="Angle, B" sort="Angle, B" uniqKey="Angle B" first="B" last="Angle">B. Angle</name>
<affiliation><nlm:affiliation>Child Evaluation Center, Department of Pediatrics, University of Louisville, Kentucky 40202, USA.</nlm:affiliation>
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<author><name sortKey="Hersh, J H" sort="Hersh, J H" uniqKey="Hersh J" first="J H" last="Hersh">J H Hersh</name>
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<author><name sortKey="Angle, B" sort="Angle, B" uniqKey="Angle B" first="B" last="Angle">B. Angle</name>
<affiliation><nlm:affiliation>Child Evaluation Center, Department of Pediatrics, University of Louisville, Kentucky 40202, USA.</nlm:affiliation>
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<series><title level="j">American journal of medical genetics</title>
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<term>Craniofacial Abnormalities (genetics)</term>
<term>Female</term>
<term>Genes, Recessive</term>
<term>Humans</term>
<term>Infant, Newborn</term>
<term>Intellectual Disability (genetics)</term>
<term>Lymphangiectasis, Intestinal (congenital)</term>
<term>Lymphangiectasis, Intestinal (genetics)</term>
<term>Lymphedema (congenital)</term>
<term>Lymphedema (genetics)</term>
<term>Phenotype</term>
<term>Syndrome</term>
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<keywords scheme="MESH" qualifier="congenital" xml:lang="en"><term>Lymphangiectasis, Intestinal</term>
<term>Lymphedema</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Abnormalities, Multiple</term>
<term>Craniofacial Abnormalities</term>
<term>Intellectual Disability</term>
<term>Lymphangiectasis, Intestinal</term>
<term>Lymphedema</term>
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<keywords scheme="MESH" xml:lang="en"><term>Female</term>
<term>Genes, Recessive</term>
<term>Humans</term>
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<front><div type="abstract" xml:lang="en">We report on a female with lymphedema, facial anomalies, intestinal lymphangiectasia, and moderate mental retardation consistent with the diagnosis of Hennekam syndrome. In addition, she had a number of other anomalies not previously described in this autosomal recessive disorder, including a congenital heart defect, atretic ear canals, vesicoureteral reflux, and rectal prolapse.</div>
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<Title>American journal of medical genetics</Title>
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<Abstract><AbstractText>We report on a female with lymphedema, facial anomalies, intestinal lymphangiectasia, and moderate mental retardation consistent with the diagnosis of Hennekam syndrome. In addition, she had a number of other anomalies not previously described in this autosomal recessive disorder, including a congenital heart defect, atretic ear canals, vesicoureteral reflux, and rectal prolapse.</AbstractText>
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