Polymicrogyria, aventriculy, polydactyly, encephalocele, callosal agenesis (PAPEC): a new syndrome?

A B KelaniS SanoussiM Garba MamadouMartin Catala

Published in: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery (2022)

We propose to name this association PAPEC (for polymicrogyria, aventriculy, polydactyly, encephalocele, and callosal agenesis). The occurrence of this disease in a highly consanguineous family suggests a genetic origin. Furthermore, we propose hypotheses that could explain pathophysiology of this defect.

Keyphrases

risk assessment
genome wide
case report
copy number
gene expression