title: Ophthalmologic findings in cerebrofaciothoracic dysplasia.
abstract: We describe the ophthalmologic findings in two cases of cerebrofaciothoracic dysplasia, a rare syndrome characterized by facial dysmorphism, multiple malformations of the vertebrae and ribs, and significant mental retardation. Both affected individuals are members of the same family and have epicanthal folds and hypertelorism. In addition, one patient has bilateral bull's eye maculopathy, which may represent an additional severe manifestation of cerebrofaciothoracic dysplasia syndrome.
authors.affiliation: First Department of Ophthalmology, Henry Dunant Hospital, Athens, Greece.
authors.forename: Evrydiki A
authors.initials: EA
authors.lastname: Bouzas
authors.forename: Panagiotis
authors.initials: P
authors.lastname: Karadimas
authors.forename: Christina
authors.initials: C
authors.lastname: Kanaka-Gantenbein
authors.forename: Constantinos
authors.initials: C
authors.lastname: Papastathopoulos
authors.forename: Stavros
authors.initials: S
authors.lastname: Dimitrakos
authors.forename: George
authors.initials: G
authors.lastname: Mastorakos
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D002648:Child; D005124:Eye Abnormalities / Q000175:diagnosis*; D005143:Eyelids / Q000002:abnormalities; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000175:diagnosis; D008607:Intellectual Disability / Q000175:diagnosis*; D008297:Male; D010375:Pedigree; D011859:Radiography; D012164:Retinal Diseases / Q000175:diagnosis; D012272:Ribs / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013904:Thoracic Vertebrae / Q000002:abnormalities* / Q000000981:diagnostic imaging