Abstract
Oculodental digital dysplasia (ODDD) is an uncommon inherited disorder with characteristic facial abnormalities, defects in dentition and syndactyly; previous reports have described neurologic dysfunction. We present neuroimaging features of a mother and daughter with ODDD; despite only the mother having neurologic dysfunction, the MRI findings in both are strikingly similar.
MeSH terms
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Adolescent
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Adult
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Brain / pathology*
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Chromosome Aberrations / genetics
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Chromosome Disorders
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Dental Enamel Hypoplasia / diagnosis
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Dental Enamel Hypoplasia / genetics*
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Female
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Genes, Dominant / genetics
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Humans
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Magnetic Resonance Imaging*
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Microphthalmos / diagnosis
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Microphthalmos / genetics*
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Neurologic Examination
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Syndactyly / diagnosis
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Syndactyly / genetics*
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Syndrome