Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation

Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation

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

• https://api.istex.fr/document/6A880DE75032292BB25CC052C61D0E3526DD634E/fulltext/pdf

Affiliations:

• Pays-Bas
• Gueldre, Utrecht (province)
• Nimègue, Utrecht

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