title: The Noonan syndrome. The Nancy experience revisited.
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.
authors.affiliation: Laboratoire de Génétique, CHRU Nancy.
authors.forename: M
authors.initials: M
authors.lastname: Chery
authors.forename: C
authors.initials: C
authors.lastname: Philippe
authors.forename: A M
authors.initials: AM
authors.lastname: Worms
authors.forename: S
authors.initials: S
authors.lastname: Gilgenkrantz
mesh_terms: D000293:Adolescent; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities; D002648:Child; D002675:Child, Preschool; D002892:Chromosomes, Human, Pair 22; D002893:Chromosomes, Human, Pair 3; D005145:Face / Q000002:abnormalities; D005260:Female; D005799:Genes, Dominant; D006330:Heart Defects, Congenital; D006801:Humans; D007223:Infant; D008209:Lymphedema / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009634:Noonan Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D012871:Skin Diseases / Q000235:genetics; D012886:Skull / Q000002:abnormalities; D014178:Translocation, Genetic