Article
[Nosologic evaluation of Noonan syndrome and description of nine cases].
Minerva pediatrica - 1 Sept 1993
de Toni T, Arioni C, Traverso A, Gastaldi R, Vianello M G
Abstract excerpt
Noonan syndrome was first described over 20 years ago by Noonan and Ehmke. They defined a specific group of nine patients with valvular pulmonary stenosis who, in addition, had short stature, mild mental retardation, hypertelorism and unusual facies. The incidence of Noonan syndrome has been esti...
Topics
- Blepharoptosis
- Body Height
- Child
- Child, Preschool
- Female
- Genotype
- Growth Hormone
- Heart Defects, Congenital
- Humans
- Hypertelorism
- Infant
- Intellectual Disability
- Male
- Noonan Syndrome
- Phenotype