| Lissencephaly and mild cerebellar vermis hypoplasia in a case of microcephaly and chorioretinal dysplasia. | |
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MedLine Citation:
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PMID: 20450312 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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 lissencephaly, thus brain imaging should be considered in evaluating these patients. |
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Authors:
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Byung Joo Lee; Jeong Hun Kim; Young Suk Yu |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Ophthalmic genetics Volume: 31 ISSN: 1744-5094 ISO Abbreviation: Ophthalmic Genet. Publication Date: 2010 Jun |
Date Detail:
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Created Date: 2010-05-10 Completed Date: 2010-06-10 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9436057 Medline TA: Ophthalmic Genet Country: England |
Other Details:
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Languages: eng Pagination: 89-93 Citation Subset: IM |
Affiliation:
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Department of Ophthalmology, Seoul National University College of Medicine, and Seoul Artificial Eye Center, Seoul National University Hospital Clinical Research Institute, Seoul, Korea. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Cerebellum / abnormalities*, pathology Child Choroid / abnormalities*, pathology Developmental Disabilities / diagnosis, genetics Electroretinography Evoked Potentials, Visual Humans Magnetic Resonance Imaging Male Microcephaly / diagnosis, genetics* Nystagmus, Congenital / genetics Retinal Dysplasia / diagnosis, genetics* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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