Expansion of the phenotype in Hennekam syndrome: a case with new manifestations.
Identifieur interne : 004F76 ( PubMed/Curation ); précédent : 004F75; suivant : 004F77Expansion 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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Angle</name><affiliation wicri:level="1"><nlm:affiliation>Child Evaluation Center, Department of Pediatrics, University of Louisville, Kentucky 40202, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Child Evaluation Center, Department of Pediatrics, University of Louisville, Kentucky 40202</wicri:regionArea></affiliation></author><author><name sortKey="Hersh, J H" sort="Hersh, J H" uniqKey="Hersh J" first="J H" last="Hersh">J H Hersh</name></author></analytic><series><title level="j">American journal of medical genetics</title><idno type="ISSN">0148-7299</idno><imprint><date when="1997" type="published">1997</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormalities, Multiple (genetics)</term><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></keywords><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></keywords><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></keywords><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></keywords><keywords scheme="MESH" xml:lang="fr"><term>Femelle</term><term>Gènes récessifs</term><term>Humains</term><term>Lymphangiectasie intestinale</term><term>Lymphoedème</term><term>Nouveau-né</term><term>Phénotype</term><term>Syndrome</term></keywords></textClass></profileDesc></teiHeader><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></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">9217224</PMID><DateCreated><Year>1997</Year><Month>09</Month><Day>03</Day></DateCreated><DateCompleted><Year>1997</Year><Month>09</Month><Day>03</Day></DateCompleted><DateRevised><Year>2011</Year><Month>11</Month><Day>17</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0148-7299</ISSN><JournalIssue CitedMedium="Print"><Volume>71</Volume><Issue>2</Issue><PubDate><Year>1997</Year><Month>Aug</Month><Day>08</Day></PubDate></JournalIssue><Title>American journal of medical genetics</Title><ISOAbbreviation>Am. J. Med. 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