Noonan syndrome associated with unilateral iris coloboma and congenital chylothorax in an infant.
Chylothorax and colobomas are uncommon features reported in Noonan syndrome. We describe an infant with Noonan phenotype, congenital chylothorax and a unilateral iris coloboma. The presence of these both abnormalities in the same patient has not previously been reported.
Carvalho
D R
DR
Alves
V V B
VV
Minaré-Júnior
A
A
Peres
L C
LC
Pina-Neto
J M
JM
Ramos
E S
ES
D002916:Chylothorax / Q000503:physiopathology*; D003103:Coloboma / Q000503:physiopathology*; D006801:Humans; D007223:Infant; D007498:Iris / Q000002:abnormalities*; D008297:Male; D009634:Noonan Syndrome / Q000503:physiopathology*