| Neurological manifestations of the oculodentodigital dysplasia syndrome. | |
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MedLine Citation:
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PMID: 12021949 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Oculodentodigital dysplasia (ODDD) (MIM 164200) is a rare autosomal dominant inherited disorder affecting the development of the face, eyes, limbs and dentition. Neurological complications are thought to be occasional manifestations of the disorder. This report illustrates the neurological manifestations by a pedigree of two ODDD patients with spastic paraparesis, cerebral white matter hyperintensity and basal ganglia hypointensity. A systematic review of the English, French, German and Italian literature on ODDD is also provided to summarize the neurological manifestations of the disorder. 243 previously described ODDD cases presented a spectrum of neurological manifestation including spasticity (25), subcortical white matter lesions (9) and basal ganglia changes (6) on MRI. Additional findings consisted of gaze palsy and squinting (28), bladder and bowel disturbances (21), visual loss (20) and blindness (4), hearing loss (15), ataxia (11), nystagmus (9), muscle weakness (5) and paresthesias (3). Neurological manifestations, including spasticity associated with MRI changes, are an underrecognized feature in the ODDD phenotype. A clinical guide to the neurological manifestations of ODDD may assist in the assessment of patients with this condition. |
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Authors:
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Tobias Loddenkemper; Kerstin Grote; Stefan Evers; Michael Oelerich; Florian Stögbauer |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of neurology Volume: 249 ISSN: 0340-5354 ISO Abbreviation: J. Neurol. Publication Date: 2002 May |
Date Detail:
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Created Date: 2002-05-21 Completed Date: 2002-08-09 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 0423161 Medline TA: J Neurol Country: Germany |
Other Details:
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Languages: eng Pagination: 584-95 Citation Subset: IM |
Affiliation:
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Department of Neurology, Westfälische Wilhelms-Universität, Münster, Germany. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Brain / abnormalities*, pathology, physiopathology* Chromosomes, Human, Pair 6 / genetics* Cranial Nerve Diseases / etiology, pathology, physiopathology Eye Abnormalities / complications* Female Hand Deformities, Congenital / complications* Humans Magnetic Resonance Imaging Male Mental Retardation / etiology, pathology, physiopathology Middle Aged Muscle Spasticity / etiology, pathology, physiopathology Mutation / genetics Nerve Fibers, Myelinated / pathology Nervous System Malformations / pathology, physiopathology* Phenotype Tooth Abnormalities / complications* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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