Noonan syndrome - Phenotip

Noonan syndrome Relevant markers:

Absent rib/sAortic valve stenosisAscitesAtrial septal defect (ASD)BrachycephalyBroad nasal bridgeDistended jugular lymphatic sacsHydropsHypertelorismHypoplastic left ventricleLow nasal bridgeLow set ear/sLymphatic dysplasiaMicropenisNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaPericardial effusionPleural effusionPolyhydramniosProminent foreheadProptosis/prominent eyesPulmonary valve stenosisRhizomelia/short femurShort long bonesShort neckTetralogy of Fallot (TOF)Undescended testes

Parents markers:

CardiomyopathyFaceHeartHemivertebraIntrauterine growth retardation (IUGR/SGA/FGR)KidneysPyelectasis/hydronephrosisVentriculomegalyVentricular septal defect (VSD)Pulmonary artery stenosis

Involved genes:
(gene — definition — chromosome)

PTPN11 — 12q24.13

Inheritance mode:

AD, Sporadic (new mutation)

Other online databases:

OrphaNet, OMIM, Geneva Foundation, Jablonski's Database

References:

2010	J Matern Fetal Neonatal Med	Case report	Read on PubMed
2010	Prenat Diagn	Case series of 3 cases	Read on PubMed
2011	Prenat Diagn	Cohort of 47 patients	Read on PubMed
2012	Prenat Diagn	Case report	Read on PubMed
2013	Prenat Diagn	Summary of 28 cases	Read on PubMed
2014	Am J Med Genet A	Review	Read on PubMed
2016	Prenatal Diagn	Retrospective study of 46 Noonan patients	Read on PubMed