A patient with ectodermal dysplasia, Joubert's syndrome, and brain cysts.
A patient with ectodermal dysplasia, Joubert's syndrome, and cerebral cysts is reported. The combination of these findings suggested a disorder of the embryonic ectoderm, manifesting as a neurocutaneous syndrome.
Sener
R N
RN
Department of Radiology, Ege University Hospital, Bornova, Izmir, Turkey. rnsener@med.ege.edu.tr
D001927:Brain Diseases / Q000150:complications* / Q000000981:diagnostic imaging; D002531:Cerebellum / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002675:Child, Preschool; D003560:Cysts / Q000150:complications* / Q000000981:diagnostic imaging; D004475:Ectoderm; D004476:Ectodermal Dysplasia / Q000150:complications*; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology*; D008297:Male; D009123:Muscle Hypotonia / Q000473:pathology*; D012120:Respiration Disorders / Q000473:pathology*; D013577:Syndrome; D014057:Tomography, X-Ray Computed