Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter

D. H. Gutmann, E. H. Zackai, D. M. McDonald-McGinn, K. H. Fischbeck, J. Kamholz

Research output: Contribution to journalArticlepeer-review

53 Scopus citations

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.

Original languageEnglish
Pages (from-to)18-20
Number of pages3
JournalAmerican journal of medical genetics
Volume41
Issue number1
DOIs
StatePublished - 1991

Keywords

  • hereditary spastic paraparesis
  • leukodystrophy

Fingerprint

Dive into the research topics of 'Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter'. Together they form a unique fingerprint.

Cite this