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Case Reports
. 1989 Feb;5(1):35-7.
doi: 10.1007/BF00706745.

Lissencephaly with congenital muscular dystrophy and ocular abnormalities: cerebro-oculo-muscular syndrome

M Sasaki  1 , K Yoshioka, T Yanagisawa, A Nemoto, Y Takasago, T Nagano
Affiliations
Case Reports

Lissencephaly with congenital muscular dystrophy and ocular abnormalities: cerebro-oculo-muscular syndrome

M Sasaki et al. Childs Nerv Syst. 1989 Feb.

Abstract

A Japanese male infant with lissencephaly, congenital muscular dystrophy (CMD), and ocular abnormalities is described. This patient represents features of the cerebro-oculo-muscular syndrome. Cranial computerized tomography revealed diffuse agyria, low density of the white matter, and hypoplasia of the cerebellar vermis. Brain histology suggested type II lissencephaly. These findings are correlated with other similar conditions, such as Walker-Warburg syndrome, Fukuyama-type CMD, and muscle, eye and brain disease.

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