Details

Autor(en) / Beteiligte

• Breilyn, Margo Sheck
• Mehta, Lakshmi

Titel

Clinical Manifestations of Noonan Syndrome and Related Disorders

Ist Teil von

• Pediatric endocrinology reviews : PER, 2019-05, Vol.16 (Suppl 2), p.428

Ort / Verlag

Israel

Erscheinungsjahr

2019

Quelle

MEDLINE

Beschreibungen/Notizen

• Noonan syndrome represents a heterogeneous group of genetic disorders caused by mutations in genes of the RAS/MAPK pathway. Related syndromes include cardiofaciocutaneous syndrome, Noonan syndrome with multiple lentigines and Costello syndrome. The common phenotypic features of Noonan syndrome include facial dysmorphisms, short stature, congenital heart defects and genitourinary abnormalities. These and other findings as well as features of related disorders are discussed. In addition we briefly review clinical diagnosis and prenatal findings of these syndromes and genetic counseling implications.