RT Journal Article
SR Electronic
T1 Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 884
OP 885
DO 10.1136/jmg.28.12.884
VO 28
IS 12
A1 J H Begeer
A1 F A Scholte
A1 A J van Essen
YR 1991
UL http://jmg.bmj.com/content/28/12/884.abstract
AB Two sisters are described with a disorder characterised by mental retardation, congenital cataract, progressive spinocerebellar ataxia, sensorineural deafness, and signs of peripheral neuropathy. Progressive hearing loss, ataxia, and polyneuropathy became evident in the third decade. The differential diagnosis of this syndrome is discussed including the syndromes described by Berman et al and Koletzko et al.