TY - JOUR
T1 - Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter
AU - Gutmann, D. H.
AU - Zackai, E. H.
AU - McDonald-McGinn, D. M.
AU - Fischbeck, K. H.
AU - Kamholz, J.
PY - 1991
Y1 - 1991
N2 - 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.
AB - 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.
KW - hereditary spastic paraparesis
KW - leukodystrophy
UR - http://www.scopus.com/inward/record.url?scp=0026350813&partnerID=8YFLogxK
U2 - 10.1002/ajmg.1320410106
DO - 10.1002/ajmg.1320410106
M3 - Article
C2 - 1659191
AN - SCOPUS:0026350813
SN - 0148-7299
VL - 41
SP - 18
EP - 20
JO - American journal of medical genetics
JF - American journal of medical genetics
IS - 1
ER -