Bilateral orbito-palpebral cysts in a case of cryptophthalmos associated with Fraser syndrome.
A 15-month-old girl was referred for evaluation of congenital absence of both eyelids. Clinical evaluation revealed bilateral total cryptophthalmos and enlarged globes in addition to genitourinary anomalies, umbilical hernia, renal agenesis, and facial anomalies. The clinical findings were consistent with Fraser syndrome. Magnetic resonance imaging of the orbits revealed dysplastic globes that were characterized by cystic expansions that extended laterally anterior to the lateral orbital rim. Bilateral orbito-palpebral cysts that communicate with a dysplastic globe and extend beyond the orbital cavity may be a rare presenting feature of Fraser syndrome.
Mocan
Mehmet C
MC
Department of Ophthalmology, Hacettepe University School of Medicine, Ankara, Turkey.
Ozgen
Burce
B
Irkec
Murat
M
D000015:Abnormalities, Multiple; D005124:Eye Abnormalities / Q000000981:diagnostic imaging / Q000473:pathology*; D005143:Eyelids / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005260:Female; D007839:Functional Laterality; D006801:Humans; D007223:Infant; D013576:Syndactyly / Q000000981:diagnostic imaging / Q000473:pathology*; D013577:Syndrome; D014463:Ultrasonography