[A new case of Cohen's syndrome].
We report a detailed description of ocular alterations, especially uveal coloboma, as shown in a patient with Cohen's syndrome. We also report new lesions, not previously described in the revised bibliography: lens and optic head colobomas, hyaloid artery and anterior "vasculosa lentis" tunica vestige. The most characteristic ocular alterations previously described in the bibliography are eyelid antimongoloid fissures, strabismus and myopia.
D000015:Abnormalities, Multiple; D000293:Adolescent; D002829:Choroid / Q000002:abnormalities*; D003103:Coloboma / Q000473:pathology*; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology; D007908:Lens, Crystalline / Q000002:abnormalities*; D009898:Optic Disk / Q000002:abnormalities*; D013577:Syndrome
Une nouvelle observation du syndrome de Cohen.