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Am J Med Genet A. 2003 Apr 1;118A(1):76-81.

Leukodystrophy associated with oligodontia in a large inbred family: fortuitous association or new entity?

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1
Service de Neurologie, Hôpital Makassed, Beirut, Lebanon.

Abstract

We describe a large inbred Syrian pedigree with an autosomal recessive neurodegenerative disorder. The clinical picture of the affected patients is oligodontia, and a degenerative neurological condition with onset around age 12, characterized by progressive ataxia and pyramidal syndrome. Abnormalities in the white matter and cortical atrophy were assessed by magnetic resonance imaging. Differential diagnosis and the possibility of a fortuitous association or the report of a hitherto unreported dento-leukoencephalopathy are discussed.

PMID:
12605447
DOI:
10.1002/ajmg.a.10019
[Indexed for MEDLINE]
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