The Noonan syndrome. The Nancy experience revisited.
Identifieur interne : 005813 ( PubMed/Curation ); précédent : 005812; suivant : 005814The Noonan syndrome. The Nancy experience revisited.
Auteurs : M. Chery ; C. Philippe ; A M Worms ; S. GilgenkrantzSource :
- Genetic counseling (Geneva, Switzerland) [ 1015-8146 ] ; 1993.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Adulte d'âge moyen, Cardiopathies congénitales, Chromosomes humains de la paire 22, Chromosomes humains de la paire 3, Crâne (malformations), Enfant, Enfant d'âge préscolaire, Face (malformations), Femelle, Gènes dominants, Humains, Lymphoedème (génétique), Maladies de la peau (génétique), Mâle, Nourrisson, Os et tissu osseux (malformations), Phénotype, Syndrome de Noonan (anatomopathologie), Syndrome de Noonan (diagnostic), Syndrome de Noonan (génétique), Translocation génétique.
- MESH :
- anatomopathologie : Syndrome de Noonan.
- diagnostic : Syndrome de Noonan.
- génétique : Lymphoedème, Maladies de la peau, Syndrome de Noonan.
- malformations : Crâne, Face, Os et tissu osseux.
- Adolescent, Adulte, Adulte d'âge moyen, Cardiopathies congénitales, Chromosomes humains de la paire 22, Chromosomes humains de la paire 3, Enfant, Enfant d'âge préscolaire, Femelle, Gènes dominants, Humains, Mâle, Nourrisson, Phénotype, Translocation génétique.
English descriptors
- KwdEn :
- Adolescent, Adult, Bone and Bones (abnormalities), Child, Child, Preschool, Chromosomes, Human, Pair 22, Chromosomes, Human, Pair 3, Face (abnormalities), Female, Genes, Dominant, Heart Defects, Congenital, Humans, Infant, Lymphedema (genetics), Male, Middle Aged, Noonan Syndrome (diagnosis), Noonan Syndrome (genetics), Noonan Syndrome (pathology), Phenotype, Skin Diseases (genetics), Skull (abnormalities), Translocation, Genetic.
- MESH :
- abnormalities : Bone and Bones, Face, Skull.
- diagnosis : Noonan Syndrome.
- genetics : Lymphedema, Noonan Syndrome, Skin Diseases.
- pathology : Noonan Syndrome.
- Adolescent, Adult, Child, Child, Preschool, Chromosomes, Human, Pair 22, Chromosomes, Human, Pair 3, Female, Genes, Dominant, Heart Defects, Congenital, Humans, Infant, Male, Middle Aged, Phenotype, Translocation, Genetic.
Abstract
67 patients with Noonan syndrome seen over the last 29 years were selected preferentially on cardiac involvement. The cardiac anomalies consisted in the association of dysplastic pulmonary stenosis with asymmetric cardiomyopathy. In one patient, a translocation (3;22) was found. The relationship with cardio-facio-cutaneous syndrome and with the group of phacomatoses is discussed. The familial occurrence (10 families) seems compatible with autosomal dominant inheritance. A gene location on chromosome 22 cannot be excluded.
PubMed: 8357561
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M. Chery<affiliation><nlm:affiliation>Laboratoire de Génétique, CHRU Nancy.</nlm:affiliation>
<wicri:noCountry code="subField">CHRU Nancy</wicri:noCountry>
</affiliation>
Le document en format XML
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Bone and Bones (abnormalities)</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Chromosomes, Human, Pair 22</term>
<term>Chromosomes, Human, Pair 3</term>
<term>Face (abnormalities)</term>
<term>Female</term>
<term>Genes, Dominant</term>
<term>Heart Defects, Congenital</term>
<term>Humans</term>
<term>Infant</term>
<term>Lymphedema (genetics)</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Noonan Syndrome (diagnosis)</term>
<term>Noonan Syndrome (genetics)</term>
<term>Noonan Syndrome (pathology)</term>
<term>Phenotype</term>
<term>Skin Diseases (genetics)</term>
<term>Skull (abnormalities)</term>
<term>Translocation, Genetic</term>
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<term>Adulte</term>
<term>Adulte d'âge moyen</term>
<term>Cardiopathies congénitales</term>
<term>Chromosomes humains de la paire 22</term>
<term>Chromosomes humains de la paire 3</term>
<term>Crâne (malformations)</term>
<term>Enfant</term>
<term>Enfant d'âge préscolaire</term>
<term>Face (malformations)</term>
<term>Femelle</term>
<term>Gènes dominants</term>
<term>Humains</term>
<term>Lymphoedème (génétique)</term>
<term>Maladies de la peau (génétique)</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Os et tissu osseux (malformations)</term>
<term>Phénotype</term>
<term>Syndrome de Noonan (anatomopathologie)</term>
<term>Syndrome de Noonan (diagnostic)</term>
<term>Syndrome de Noonan (génétique)</term>
<term>Translocation génétique</term>
</keywords>
<keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Bone and Bones</term>
<term>Face</term>
<term>Skull</term>
</keywords>
<keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Syndrome de Noonan</term>
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<term>Noonan Syndrome</term>
<term>Skin Diseases</term>
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<term>Maladies de la peau</term>
<term>Syndrome de Noonan</term>
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<keywords scheme="MESH" qualifier="malformations" xml:lang="fr"><term>Crâne</term>
<term>Face</term>
<term>Os et tissu osseux</term>
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<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Noonan Syndrome</term>
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<term>Adult</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Chromosomes, Human, Pair 22</term>
<term>Chromosomes, Human, Pair 3</term>
<term>Female</term>
<term>Genes, Dominant</term>
<term>Heart Defects, Congenital</term>
<term>Humans</term>
<term>Infant</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Phenotype</term>
<term>Translocation, Genetic</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term>
<term>Adulte</term>
<term>Adulte d'âge moyen</term>
<term>Cardiopathies congénitales</term>
<term>Chromosomes humains de la paire 22</term>
<term>Chromosomes humains de la paire 3</term>
<term>Enfant</term>
<term>Enfant d'âge préscolaire</term>
<term>Femelle</term>
<term>Gènes dominants</term>
<term>Humains</term>
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<front><div type="abstract" xml:lang="en">67 patients with Noonan syndrome seen over the last 29 years were selected preferentially on cardiac involvement. The cardiac anomalies consisted in the association of dysplastic pulmonary stenosis with asymmetric cardiomyopathy. In one patient, a translocation (3;22) was found. The relationship with cardio-facio-cutaneous syndrome and with the group of phacomatoses is discussed. The familial occurrence (10 families) seems compatible with autosomal dominant inheritance. A gene location on chromosome 22 cannot be excluded.</div>
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<Abstract><AbstractText>67 patients with Noonan syndrome seen over the last 29 years were selected preferentially on cardiac involvement. The cardiac anomalies consisted in the association of dysplastic pulmonary stenosis with asymmetric cardiomyopathy. In one patient, a translocation (3;22) was found. The relationship with cardio-facio-cutaneous syndrome and with the group of phacomatoses is discussed. The familial occurrence (10 families) seems compatible with autosomal dominant inheritance. A gene location on chromosome 22 cannot be excluded.</AbstractText>
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