This child presented with intellectual disability and ejection systolic murmur in the pulmonary area. He also had cubitus valgus & webbed neck. Differences from Turner syndrome are all of the following except:
Karyotype normal
Feile but delayed pubey
May be seen in males or females
Sho stature seen in only this disorder
Noonan syndrome: Autosomal dominant, Normal karyotype MC gene involved is PTPN 11 - C/F : Sho stature webbed neck Antimongoloid slant eyes (Opposite of Down syndrome) Cubitus valgus Intellectual disability - Similarities and differences between Noonan syndrome and Turner syndrome
Impoant Genetic Syndromes