title: A clinical study of Noonan syndrome.
abstract: Clinical details are presented on 151 individuals with Noonan syndrome (83 males and 68 females, mean age 12.6 years). Polyhydramnios complicated 33% of affected pregnancies. The commonest cardiac lesions were pulmonary stenosis (62%), and hypertrophic cardiomyopathy (20%), with a normal echocardiogram present in only 12.5% of all cases. Significant feeding difficulties during infancy were present in 76% of the group. Although the children were short (50% with a height less than 3rd centile), and underweight (43% with a weight less than 3rd centile), the mean head circumference of the group was on the 50th centile. Motor milestone delay was usual, the cohort having a mean age of sitting unsupported of 10 months and walking of 21 months. Abnormal vision (94%) and hearing (40%) were frequent findings, but 89% of the group were attending normal primary or secondary schools. Other associations included undescended testicles (77%), hepatosplenomegaly (50%), and evidence of abnormal bleeding (56%). The mean age at diagnosis of Noonan syndrome in this group was 9.0 years. Earlier diagnosis of this common condition would aid both clinical management and genetic counselling.
authors.affiliation: St George's Hospital Medical School, London, Tooting.
authors.forename: M
authors.initials: M
authors.lastname: Sharland
authors.forename: M
authors.initials: M
authors.lastname: Burch
authors.forename: W M
authors.initials: WM
authors.lastname: McKenna
authors.forename: M A
authors.initials: MA
authors.lastname: Paton
mesh_terms: D000293:Adolescent; D000328:Adult; D001827:Body Height; D002312:Cardiomyopathy, Hypertrophic / Q000209:etiology; D002648:Child; D002657:Child Development; D002675:Child, Preschool; D005145:Face; D005247:Feeding Behavior / Q000502:physiology; D005260:Female; D006470:Hemorrhage / Q000209:etiology; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009468:Neuromuscular Diseases / Q000209:etiology; D009634:Noonan Syndrome / Q000175:diagnosis*; D006831:Polyhydramnios / Q000150:complications; D011247:Pregnancy; D011666:Pulmonary Valve Stenosis / Q000209:etiology; D012871:Skin Diseases / Q000209:etiology; D014786:Vision Disorders / Q000209:etiology