ESPE Abstracts

Introduction: Noonan syndrome (NS) is a rare autosomal dominant genetic disorder with an estimated incidence of 1/2500. Diagnosis is mainly clinical, with the association of dysmorphic signs, cardiac malformations and delayed growth.Observation: The cases involved 2 boys and 2 girls. The average age at diagnosis was 9.5 years, with a characteristic facial dysmorphia in 100% of cases, cardiac malformations such as pulmona...