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癫痫作为眼牙指发育不良的一种罕见神经表现。

Epilepsy as a rare neurologic manifestation of oculodentodigitalis dysplasia.

作者信息

Barzegar Mohammad, Sayadnasiri Mohammad, Tabrizi Aidin

机构信息

Professor of pediatric Neurology, Pediatric Health Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.

Assistant professor of Neurology, Department of Neurology, Qazvin University of Medical Sciences, Qazvin, Iran.

出版信息

Iran J Child Neurol. 2012 Summer;6(3):39-43.

PMID:24665271
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3943032/
Abstract

Oculodentodigitalis dysplasia (ODDD) is an extremely rare inherited disorder involving the development of the face, eyes, teeth and limbs. In addition, some patients develop neurological problems mostly a spastic paraparesis associated with white matter abnormalities on magnetic resonance imaging. This report describes a patient with epilepsy, a rare neurologic manifestation of this syndrome.

摘要

眼牙指发育不全（ODDD）是一种极其罕见的遗传性疾病，涉及面部、眼睛、牙齿和四肢的发育。此外，一些患者会出现神经问题，主要是与磁共振成像上的白质异常相关的痉挛性截瘫。本报告描述了一名患有癫痫的患者，癫痫是该综合征罕见的神经学表现。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6306/3943032/b680df5bd708/ijcn-6-039-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6306/3943032/ed2f9db57b49/ijcn-6-039-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6306/3943032/174ff55ba4ab/ijcn-6-039-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6306/3943032/476d1d9f09da/ijcn-6-039-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6306/3943032/b680df5bd708/ijcn-6-039-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6306/3943032/ed2f9db57b49/ijcn-6-039-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6306/3943032/174ff55ba4ab/ijcn-6-039-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6306/3943032/476d1d9f09da/ijcn-6-039-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6306/3943032/b680df5bd708/ijcn-6-039-g004.jpg

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Oculo-dento-digital dysplasia: a systematic analysis of published dental literature.眼-牙-指发育不全：已发表牙科文献的系统分析
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Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement.眼齿指（趾）发育不良：一种伴有特征性脑干受累 MRI 模式的脑白质营养不良症。

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Neurological manifestations of the oculodentodigital dysplasia syndrome.眼牙指发育不全综合征的神经学表现
J Neurol. 2002 May;249(5):584-95. doi: 10.1007/s004150200068.
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Central nervous system abnormalities in oculodentodigital dysplasia.眼牙指发育不全中的中枢神经系统异常。
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Hereditary spastic paraplegia with neurogenic bladder disturbances and syndactylia.伴有神经源性膀胱功能障碍和并指（趾）畸形的遗传性痉挛性截瘫
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