A patient with de Morsier and Duane syndromes.
de Morsier syndrome, or septo-optic dysplasia, is a developmental malformation complex characterized by optic nerve hypoplasia, dysgenesis of the septum pellucidum, and hypothalamic-pituitary dysfunction. (1,2) In Duane retraction syndrome, there is absence of the sixth nerve nucleus with congenital retraction of the globe and narrowing of the lid fissure in adduction, frequent abduction deficiency, and variable limitation to adduction of the affected eye. (3) The purpose of this report is to present a patient with the uncommon and previously unreported concurrence of both of these congenital malformation complexes, presumably because of a common disturbance of neuronal development.
Aguirre-Aquino
B I
BI
Department of Pediatric Ophthalmology and Strabismus, the Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland, Ohio 44195, USA.
Rogers
D G
DG
Traboulsi
E I
EI
D000015:Abnormalities, Multiple / Q000175:diagnosis; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004370:Duane Retraction Syndrome / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009898:Optic Disk / Q000002:abnormalities*; D009901:Optic Nerve Diseases / Q000150:complications* / Q000151:congenital / Q000175:diagnosis; D012688:Septum Pellucidum / Q000002:abnormalities*