Journal article
Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter
American journal of medical genetics, Vol.41(1), pp.18-20
10/01/1991
DOI: 10.1002/ajmg.1320410106
PMID: 1659191
Abstract
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.
Details
- Title: Subtitle
- Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter
- Creators
- David H GutmannElaine H ZackaiDonna M McDonald‐McGinnKenneth H FischbeckJohn Kamholz
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics, Vol.41(1), pp.18-20
- DOI
- 10.1002/ajmg.1320410106
- PMID
- 1659191
- NLM abbreviation
- Am J Med Genet
- ISSN
- 0148-7299
- eISSN
- 1096-8628
- Publisher
- Wiley; New York
- Number of pages
- 3
- Grant note
- National Institute of Health Program (NS08075)
- Language
- English
- Date published
- 10/01/1991
- Academic Unit
- Neurology; Psychiatry
- Record Identifier
- 9984020721302771
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