Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation.
Identifieur interne : 007712 ( Ncbi/Curation ); précédent : 007711; suivant : 007713Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation.
Auteurs : R C Hennekam [Pays-Bas] ; R A Geerdink ; B C Hamel ; F A Hennekam ; P. Kraus ; J A Rammeloo ; A A TillemansSource :
- American journal of medical genetics [ 0148-7299 ] ; 1989.
Descripteurs français
- KwdFr :
- Adulte, Consanguinité, Déficience intellectuelle (), Déficience intellectuelle (génétique), Enfant, Enfant d'âge préscolaire, Entéropathie exsudative (génétique), Face (malformations), Femelle, Gènes récessifs, Humains, Lymphangiectasie intestinale (), Lymphangiectasie intestinale (anatomopathologie), Lymphangiectasie intestinale (génétique), Lymphoedème (), Lymphoedème (génétique), Malformations multiples (génétique), Mâle, Pedigree.
- MESH :
- anatomopathologie : Lymphangiectasie intestinale.
- génétique : Déficience intellectuelle, Entéropathie exsudative, Lymphangiectasie intestinale, Lymphoedème, Malformations multiples.
- malformations : Face.
- Adulte, Consanguinité, Déficience intellectuelle, Enfant, Enfant d'âge préscolaire, Femelle, Gènes récessifs, Humains, Lymphangiectasie intestinale, Lymphoedème, Mâle, Pedigree.
English descriptors
- KwdEn :
- Abnormalities, Multiple (genetics), Adult, Child, Child, Preschool, Consanguinity, Face (abnormalities), Female, Genes, Recessive, Humans, Intellectual Disability (complications), Intellectual Disability (genetics), Lymphangiectasis, Intestinal (complications), Lymphangiectasis, Intestinal (genetics), Lymphangiectasis, Intestinal (pathology), Lymphedema (complications), Lymphedema (genetics), Male, Pedigree, Protein-Losing Enteropathies (genetics).
- MESH :
- abnormalities : Face.
- complications : Intellectual Disability, Lymphangiectasis, Intestinal, Lymphedema.
- genetics : Abnormalities, Multiple, Intellectual Disability, Lymphangiectasis, Intestinal, Lymphedema, Protein-Losing Enteropathies.
- pathology : Lymphangiectasis, Intestinal.
- Adult, Child, Child, Preschool, Consanguinity, Female, Genes, Recessive, Humans, Male, Pedigree.
Abstract
We report on two male and two female relatives with intestinal lymphangiectasia; severe lymphedema of limbs, genitalia, and face; facial anomalies; seizures; mild growth retardation; and moderate mental retardation. Main facial anomalies are a flat face, flat nasal bridge, hypertelorism, small mouth, tooth anomalies, and ear defects. Their parents are consanguineous. This disorder probably is an hitherto undescribed autosomal recessive syndrome.
DOI: 10.1002/ajmg.1320340429
PubMed: 2624276
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pubmed:2624276Le document en format XML
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<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Clinical Genetics Center Utrecht</wicri:regionArea>
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<author><name sortKey="Geerdink, R A" sort="Geerdink, R A" uniqKey="Geerdink R" first="R A" last="Geerdink">R A Geerdink</name>
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<author><name sortKey="Hamel, B C" sort="Hamel, B C" uniqKey="Hamel B" first="B C" last="Hamel">B C Hamel</name>
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<author><name sortKey="Hennekam, F A" sort="Hennekam, F A" uniqKey="Hennekam F" first="F A" last="Hennekam">F A Hennekam</name>
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<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Clinical Genetics Center Utrecht</wicri:regionArea>
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<author><name sortKey="Geerdink, R A" sort="Geerdink, R A" uniqKey="Geerdink R" first="R A" last="Geerdink">R A Geerdink</name>
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<author><name sortKey="Hamel, B C" sort="Hamel, B C" uniqKey="Hamel B" first="B C" last="Hamel">B C Hamel</name>
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<term>Adult</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Consanguinity</term>
<term>Face (abnormalities)</term>
<term>Female</term>
<term>Genes, Recessive</term>
<term>Humans</term>
<term>Intellectual Disability (complications)</term>
<term>Intellectual Disability (genetics)</term>
<term>Lymphangiectasis, Intestinal (complications)</term>
<term>Lymphangiectasis, Intestinal (genetics)</term>
<term>Lymphangiectasis, Intestinal (pathology)</term>
<term>Lymphedema (complications)</term>
<term>Lymphedema (genetics)</term>
<term>Male</term>
<term>Pedigree</term>
<term>Protein-Losing Enteropathies (genetics)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Adulte</term>
<term>Consanguinité</term>
<term>Déficience intellectuelle ()</term>
<term>Déficience intellectuelle (génétique)</term>
<term>Enfant</term>
<term>Enfant d'âge préscolaire</term>
<term>Entéropathie exsudative (génétique)</term>
<term>Face (malformations)</term>
<term>Femelle</term>
<term>Gènes récessifs</term>
<term>Humains</term>
<term>Lymphangiectasie intestinale ()</term>
<term>Lymphangiectasie intestinale (anatomopathologie)</term>
<term>Lymphangiectasie intestinale (génétique)</term>
<term>Lymphoedème ()</term>
<term>Lymphoedème (génétique)</term>
<term>Malformations multiples (génétique)</term>
<term>Mâle</term>
<term>Pedigree</term>
</keywords>
<keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Face</term>
</keywords>
<keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Lymphangiectasie intestinale</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Intellectual Disability</term>
<term>Lymphangiectasis, Intestinal</term>
<term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Abnormalities, Multiple</term>
<term>Intellectual Disability</term>
<term>Lymphangiectasis, Intestinal</term>
<term>Lymphedema</term>
<term>Protein-Losing Enteropathies</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Déficience intellectuelle</term>
<term>Entéropathie exsudative</term>
<term>Lymphangiectasie intestinale</term>
<term>Lymphoedème</term>
<term>Malformations multiples</term>
</keywords>
<keywords scheme="MESH" qualifier="malformations" xml:lang="fr"><term>Face</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Lymphangiectasis, Intestinal</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Consanguinity</term>
<term>Female</term>
<term>Genes, Recessive</term>
<term>Humans</term>
<term>Male</term>
<term>Pedigree</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Adulte</term>
<term>Consanguinité</term>
<term>Déficience intellectuelle</term>
<term>Enfant</term>
<term>Enfant d'âge préscolaire</term>
<term>Femelle</term>
<term>Gènes récessifs</term>
<term>Humains</term>
<term>Lymphangiectasie intestinale</term>
<term>Lymphoedème</term>
<term>Mâle</term>
<term>Pedigree</term>
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<front><div type="abstract" xml:lang="en">We report on two male and two female relatives with intestinal lymphangiectasia; severe lymphedema of limbs, genitalia, and face; facial anomalies; seizures; mild growth retardation; and moderate mental retardation. Main facial anomalies are a flat face, flat nasal bridge, hypertelorism, small mouth, tooth anomalies, and ear defects. Their parents are consanguineous. This disorder probably is an hitherto undescribed autosomal recessive syndrome.</div>
</front>
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