Ophthalmologic findings in cerebrofaciothoracic dysplasia.
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.
Bouzas
Evrydiki A
EA
First Department of Ophthalmology, Henry Dunant Hospital, Athens, Greece.
Karadimas
Panagiotis
P
Kanaka-Gantenbein
Christina
C
Papastathopoulos
Constantinos
C
Dimitrakos
Stavros
S
Mastorakos
George
G
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