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Am J Med Genet. 1991 Oct 1;41(1):18-20.

Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter.

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  • 1Department of Neurology, Hospital of the University of Pennsylvania, Philadelphia.


Oculodentodigital dysplasia (ODDD) syndrome is an uncommon inherited disorder with eye and facial abnormalities, syndactyly, and defects in tooth enamel. Some of the previously reported patients with ODDD syndrome also manifested spastic quadriparesis. We describe a patient with sporadic ODDD syndrome referred for evaluation of progressive spastic paraparesis. Magnetic resonance imaging of the brain demonstrated abnormal white matter, which suggests an explanation for the observed spastic paraparesis.

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