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Title: Septo-optic dysplasia in combination with a pigmented skin lesion: a case report with nosological discussion
Authors: De Smedt, S ×
Demaerel, Philippe
Casaer, Paul
Casteels, Ingele #
Issue Date: Oct-2000
Series Title: European Journal of Paediatric Neurology vol:4 issue:4 pages:189-93
Abstract: In this case report a patient with bilateral optic nerve hypoplasia, schizencephaly and a pigmented skin lesion is described. The diagnosis of de Morsier syndrome or septo-optic dysplasia is put forward on the basis of the diagnosis of optic nerve hypoplasia. The differential diagnosis with Jadassohn's naevus phakomatosis is discussed. The importance of direct ophthalmoscopy of optic nerve abnormalities is stressed, as well as of magnetic resonance imaging, which has become a guideline in the classification of this syndrome.
ISSN: 1090-3798
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Radiology
Section Child - Miscellaneous (-)
Research Group Ophthalmology
Translational MRI (+)
× corresponding author
# (joint) last author

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