Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation
Identifieur interne : 00E093 ( Main/Exploration ); précédent : 00E092; suivant : 00E094Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation
Auteurs : R. C. M. Hennekam [Pays-Bas] ; R. A. Geerdink [Pays-Bas] ; B. C. J. Hamel [Pays-Bas] ; F. A. M. Hennekam [Pays-Bas] ; P. Kraus [Pays-Bas] ; J. A. Rammeloo [Pays-Bas] ; A. A. W. Tillemans [Pays-Bas]Source :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1989-12.
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.
- Pascal (Inist)
- Appareil circulatoire pathologie, Appareil digestif pathologie, Arriération mentale, Caractère autosomique, Caractère récessif, Consanguinité, Dysmorphie faciale, Enfant, Epilepsie, Etude familiale, Fonction encéphalique supérieure, Intestin, Lymphangiectasie, Lymphatique pathologie, Lymphoedème, Maladie héréditaire, Malformation, Psychiatrie, Stomatologie, Syndrome complexe, Système nerveux pathologie.
- Wicri :
- topic : Enfant, Psychiatrie.
English descriptors
- KwdEn :
- Abnormalities, Multiple (genetics), Adult, Autosomal character, Cardiovascular disease, Child, Child, Preschool, Complex syndrome, Consanguinity, Digestive diseases, Dysmorphic facies, Epilepsy, Face (abnormalities), Family study, Female, Genes, Recessive, Genetic disease, Gut, Higher nervous function, Humans, Intellectual Disability (complications), Intellectual Disability (genetics), Lymphangiectasis, Lymphangiectasis, Intestinal (complications), Lymphangiectasis, Intestinal (genetics), Lymphangiectasis, Intestinal (pathology), Lymphatic vessel disease, Lymphedema, Lymphedema (complications), Lymphedema (genetics), Male, Malformation, Mental retardation, Nervous system diseases, Pedigree, Protein-Losing Enteropathies (genetics), Psychiatry, Recessive character, Stomatology.
- 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.
Url:
DOI: 10.1002/ajmg.1320340429
Affiliations:
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Le document en format XML
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormalities, Multiple (genetics)</term>
<term>Adult</term>
<term>Autosomal character</term>
<term>Cardiovascular disease</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Complex syndrome</term>
<term>Consanguinity</term>
<term>Digestive diseases</term>
<term>Dysmorphic facies</term>
<term>Epilepsy</term>
<term>Face (abnormalities)</term>
<term>Family study</term>
<term>Female</term>
<term>Genes, Recessive</term>
<term>Genetic disease</term>
<term>Gut</term>
<term>Higher nervous function</term>
<term>Humans</term>
<term>Intellectual Disability (complications)</term>
<term>Intellectual Disability (genetics)</term>
<term>Lymphangiectasis</term>
<term>Lymphangiectasis, Intestinal (complications)</term>
<term>Lymphangiectasis, Intestinal (genetics)</term>
<term>Lymphangiectasis, Intestinal (pathology)</term>
<term>Lymphatic vessel disease</term>
<term>Lymphedema</term>
<term>Lymphedema (complications)</term>
<term>Lymphedema (genetics)</term>
<term>Male</term>
<term>Malformation</term>
<term>Mental retardation</term>
<term>Nervous system diseases</term>
<term>Pedigree</term>
<term>Protein-Losing Enteropathies (genetics)</term>
<term>Psychiatry</term>
<term>Recessive character</term>
<term>Stomatology</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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<term>Appareil digestif pathologie</term>
<term>Arriération mentale</term>
<term>Caractère autosomique</term>
<term>Caractère récessif</term>
<term>Consanguinité</term>
<term>Dysmorphie faciale</term>
<term>Enfant</term>
<term>Epilepsie</term>
<term>Etude familiale</term>
<term>Fonction encéphalique supérieure</term>
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<term>Psychiatrie</term>
<term>Stomatologie</term>
<term>Syndrome complexe</term>
<term>Système nerveux pathologie</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>
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