Searchable abstracts of presentations at key conferences in endocrinology

ea0029p1290 | Paediatric endocrinology | ICEECE2012

Noonan syndrome: short stature and pubertal delay

Alves M. , Barreiro J. , Heredia C. , Cabanas P. , Castro-Feijoo L. , Bastos M. , Carvalheiro M. , Pombo M.

Background: Noonan syndrome (NS) is a relatively common disease, clinically and genetically heterogeneous. It is characterized by facial dysmorphia, growth retardation, congenital heart disease, lymphatic dysplasia, among others. The diagnosis is clinical, according to van der Burgt criteria. In 61% of cases genetic mutations in the signaling pathway of RAS-MAPK are identified.Clinical case: BVM, male, NS suspected. At 3 years old sent to Pediatric Endoc...