Lethal olivopontoneocerebellar hypoplasia with dysmorphic features in sibs.
- 1 October 1992
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 29 (10) , 733-735
- https://doi.org/10.1136/jmg.29.10.733
Abstract
This report describes the clinical and neuropathological features in male and female sibs who died shortly after birth as a result of frequent convulsions and lack of spontaneous respiratory effect. Both sibs had a prominent occiput with mild contractures and the female also had overlapping fingers and rockerbottom feet. The genetic and neuropathological findings were consistent with a diagnosis of an autosomal recessive form of olivopontoneocerebellar hypoplasia/atrophy.Keywords
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