Mild Noonan phenotype associated with coloboma of the iris and choroid.
A 20-year-old Caucasian male with mild Noonan phenotype associated with coloboma of the iris and choroid is described. It is concluded that iris and retinal colobomas could be a rare feature of Noonan sydrome.
Gravholt
Claus Højbjerg
CH
Warburg
Mette
M
Friedrich
Ursula
U
D000328:Adult; D002829:Choroid / Q000002:abnormalities*; D003103:Coloboma / Q000473:pathology*; D006801:Humans; D007498:Iris / Q000002:abnormalities*; D008297:Male; D009634:Noonan Syndrome / Q000473:pathology*; D010641:Phenotype