The novel concurrence of Noonan syndrome and bilateral Duane-like synkinesis.
A 9-year-old boy with Noonan syndrome was referred for evaluation of abnormal eye movements. Ocular motility examination revealed bilateral globe retraction with narrowing of the palpebral fissure in adduction and mild restriction of abduction consistent with a bilateral Duane-like synkinesis. This novel association expands the ocular phenotype of Noonan syndrome and may suggest a commonality in the pathogenesis of these two congenital malformation complexes.
Nathan M
NM
Kerr
Andrea L
AL
Vincent
D002648:Child; D004370:Duane Retraction Syndrome / Q000150:complications; D006801:Humans; D008297:Male; D009634:Noonan Syndrome / Q000150:complications*; D046608:Synkinesis / Q000150:complications*