Endocrine Abstracts

Introduction: Noonan syndrome (NS) is an autosomal dominant disorder or may occur on a sporadic basis, characterized by short stature, typical face dysmorphology and congenital heart defects. NS is a clinical diagnosis. Establishing the diagnosis can be very difficult, especially in adulthood. There is a great variability in expression and the phenotype become less pronounced with increasing age. The scoring system of Van der Burgt et al. has been devised to help the di...