title: [Noonan syndrome associated with atrial septal defect, ventricular septal defect and pulmonary stenosis--a case report].
abstract: A 10 year old girl with diagnosis of Noonan syndrome was admitted to our hospital because of easy fatiguability and cardiac murmur. She had a peculiar face with hypertelorism, saddle nose, webbed neck and kyphosis. Chromosomal analysis demonstrated normal 46 XX pattern. Associated cardiac anomalies in this case were atrial septal defect, ventricular septal defect and pulmonary stenosis caused by pulmonary valvular dysplasia. The cardiac anomalies were corrected successfully and postoperative clinical course was uneventful.
authors.affiliation: First Department of Surgery, Yamaguchi University School of Medicine, Ube, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Noda
authors.forename: F
authors.initials: F
authors.lastname: Mori
authors.forename: M
authors.initials: M
authors.lastname: Miyamoto
authors.forename: H
authors.initials: H
authors.lastname: Tsuboi
authors.forename: K
authors.initials: K
authors.lastname: Esato
authors.forename: O
authors.initials: O
authors.lastname: Kondo
mesh_terms: D002648:Child; D005260:Female; D006344:Heart Septal Defects, Atrial / Q000150:complications* / Q000601:surgery; D006345:Heart Septal Defects, Ventricular / Q000150:complications* / Q000601:surgery; D006801:Humans; D009634:Noonan Syndrome / Q000150:complications*; D011666:Pulmonary Valve Stenosis / Q000150:complications* / Q000601:surgery