Clival encephalocele and 5q15 deletion: a case report
Surasak Puvabanditsin1, Imran Malik2, Eugene Garrow3
1Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, USA surasak1@aol.com.
Journal of Child Neurology
|April 26, 2014
Abstract:
A preterm neonate presenting with respiratory distress after birth was found to have a clival encephalocele, which is a variant of a basal encephalocele, and hypoplasia of the cerebellum. Genetic studies revealed a small deletion of the long arm of chromosome 5: 5q15 deletion. We report a rare variant of a basal encephalocele with a cerebellar malformation and 5q15 deletion.
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