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Case Reports
. 1991 Jun;66(6):710-2.
doi: 10.1136/adc.66.6.710.

Miller-Dieker syndrome with ring chromosome 17

N Sharief  1 , J Craze, D Summers, L Butler, C B Wood
Affiliations
Case Reports

Miller-Dieker syndrome with ring chromosome 17

N Sharief et al. Arch Dis Child. 1991 Jun.

Abstract

A girl presented at 6 weeks of age with failure to thrive and arching of the back. She had various dysmorphic features, hepatosplenomegaly, and developmental delay. The electroencephalogram and cranial ultrasound were abnormal, and a computed tomogram showed lissencephaly and apparent agenesis of the corpus callosum. Because of frequent aspiration she became oxygen dependent. She later developed intractable convulsions and died at the age of 9 months.

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