Noonan syndrome, a
multifaceted condition characterized by a series of birth
defects (congenital malformations) including short stature
after birth (postnatal growth retardation), webbing of the
neck (pterygium colli), caved-in chestbone (pectus
excavatum), narrowing of the artery from the heart to the
lungs (pulmonic stenosis) and, in boys, testes that do not
descend normally into the scrotum (cryptorchidism).
Although NS was called Turner-like syndrome, it is a
distinctive entity that affects both sexes and carries an
elevated risk of developmental and language delay, learning
disability, hearing loss, and mild mental retardation. NS
is inherited as a dominant condition and an NS gene has
been mapped to chromosome12.
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