Clinical Manifestations of Noonan Syndrome and Related Disorders

Margo Sheck Breilyn, Lakshmi Mehta

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)428-434
Number of pages7
JournalPediatric endocrinology reviews : PER
Volume16
DOIs
StatePublished - May 1 2019
Externally publishedYes

Keywords

  • Cardiofaciocutaneous
  • Costello
  • Noonan
  • Phenotype
  • Rasopathies
  • Syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism

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