Expansion of the phenotype in Hennekam syndrome: a case with new manifestations.
Identifieur interne : 00BF51 ( Main/Merge ); précédent : 00BF50; suivant : 00BF52Expansion of the phenotype in Hennekam syndrome: a case with new manifestations.
Auteurs : B. Angle [États-Unis] ; J H HershSource :
- American journal of medical genetics [ 0148-7299 ] ; 1997.
Descripteurs français
- KwdFr :
- Déficience intellectuelle (génétique), Femelle, Gènes récessifs, Humains, Lymphangiectasie intestinale (), Lymphangiectasie intestinale (génétique), Lymphoedème (), Lymphoedème (génétique), Malformations crâniofaciales (génétique), Malformations multiples (génétique), Nouveau-né, Phénotype, Syndrome.
- MESH :
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
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pubmed:9217224Le document en format XML
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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="KwdFr" xml:lang="fr"><term>Déficience intellectuelle (génétique)</term>
<term>Femelle</term>
<term>Gènes récessifs</term>
<term>Humains</term>
<term>Lymphangiectasie intestinale ()</term>
<term>Lymphangiectasie intestinale (génétique)</term>
<term>Lymphoedème ()</term>
<term>Lymphoedème (génétique)</term>
<term>Malformations crâniofaciales (génétique)</term>
<term>Malformations multiples (génétique)</term>
<term>Nouveau-né</term>
<term>Phénotype</term>
<term>Syndrome</term>
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<keywords scheme="MESH" qualifier="congenital" xml:lang="en"><term>Lymphangiectasis, Intestinal</term>
<term>Lymphedema</term>
</keywords>
<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>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Déficience intellectuelle</term>
<term>Lymphangiectasie intestinale</term>
<term>Lymphoedème</term>
<term>Malformations crâniofaciales</term>
<term>Malformations multiples</term>
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<keywords scheme="MESH" xml:lang="en"><term>Female</term>
<term>Genes, Recessive</term>
<term>Humans</term>
<term>Infant, Newborn</term>
<term>Phenotype</term>
<term>Syndrome</term>
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<term>Gènes récessifs</term>
<term>Humains</term>
<term>Lymphangiectasie intestinale</term>
<term>Lymphoedème</term>
<term>Nouveau-né</term>
<term>Phénotype</term>
<term>Syndrome</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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