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Lissencephaly and Mild Cerebellar Vermis Hypoplasia in a Case of Microcephaly and Chorioretinal Dysplasia

Cited 4 time in Web of Science Cited 3 time in Scopus
Issue Date
2010-06
Publisher
INFORMA HEALTHCARE
Citation
OPHTHALMIC GENETICS; Vol.31 2; 89-93
Keywords
Cerebellar vermis hypoplasiaChorioretinal dysplasiaMicrocephalyLissencephalyChorioretinopathy
Abstract
Purpose: Microcephaly and chorioretinal dysplasia is a very rare syndrome, characterized by microcephaly, chorioretinal dysplasia, mental retardation, and is phenotypically classified according to the presence of lymphedema. Among previously described patients, there has been no association with brain anomaly other than simple microcephaly, except for one case that presented with micro-lissencephaly, who had lymphedema. Methods: Herein, we describe a case of microcephaly and chorioretinal dysplasia without lymphedema who was shown to have lissencephaly and cerebellar vermis hypoplasia. His head circumference at birth was 28 cm (below-3SD) and both fundi showed pigmentary retinopathy with multiple punched-out lesions and retinal vascular attenuation. Results: Magnetic resonance imaging of the brain showed lissencephaly accompanied by inferior cerebellar vermis hypoplasia. Conclusions: These results show that microcephaly and chorioretinal dysplasia can be accompanied by lissencepahly, thus brain imaging should be considered in evaluating these patients.
ISSN
1381-6810
Language
English
URI
https://hdl.handle.net/10371/77855
DOI
https://doi.org/10.3109/13816811003620509
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College of Medicine/School of Medicine (의과대학/대학원)Ophthalmology (안과학전공)Journal Papers (저널논문_안과학전공)
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