Noonan syndrome

作者：Allanson Judith E^*

来源：American Journal of Medical Genetics Part C-Seminars in Medical Genetics, 2007, 145C(3): 274-279.

DOI：10.1002/ajmg.c.30138

• Noonan syndrome
• congenital heart defects
• hypertrophic cardiomyopathy
• short stature
• anticipatory guidance

Noonan syndrome is a common autosomal dominant condition caused by multiple genes in the RasMAPK pathway. The adult phenotype can be extremely subtle, and many adults are diagnosed only after the birth of a more obviously affected child. Whether diagnosis is made in childhood or adulthood, initial and ongoing evaluation of many systems can have considerable health benefits.

• 出版日期2007-8-15