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A clinical study of Noonan syndrome.
  1. M Sharland,
  2. M Burch,
  3. W M McKenna,
  4. M A Paton
  1. St George's Hospital Medical School, London, Tooting.

    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.

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