Congenital cystic eye with multiple dermal appendages and intracranial congenital anomalies.
Congenital cystic eye (anophthalmia with cyst) is an extremely rare anomaly discovered at birth with few reported cases in the literature, resulting from partial or complete failure during invagination of the primary optic vesicle during fetal development. Herein we present the radiographic, ultrasound, and magnetic resonance imaging findings of a unique case of congenital cystic eye associated with dermal appendages and advanced intracranial congenital anomalies in a 3-month-old boy.
Department of Diagnostic and Interventional Radiology, Papageorgiou General Hospital, Thessaloniki, Greece.
Ioannis
I
Tsitouridis
Michael
M
Michaelides
Christos
C
Tsantiridis
Styliani
S
Spyridi
Mary
M
Arvanity
Ioannis
I
Efstratiou
D000853:Anophthalmos / Q000000981:diagnostic imaging / Q000473:pathology*; D001921:Brain / Q000002:abnormalities*; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13; D003560:Cysts / Q000151:congenital* / Q000000981:diagnostic imaging / Q000473:pathology; D005128:Eye Diseases / Q000151:congenital* / Q000000981:diagnostic imaging / Q000473:pathology; D005145:Face / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D011859:Radiography; D012886:Skull / Q000000981:diagnostic imaging