Safae Abdessadek

Early-Onset Seizures Revealing 1p36 Deletion Syndrome in an Infant with Craniofacial Dysmorphism and Optic Disc Coloboma: A Case Report

Aims: To describe an infant in whom early-onset seizures led to the diagnosis of 1p36 deletion syndrome and to emphasise the diagnostic contribution of whole-exome sequencing with copy-number variation analysis when the early phenotype is incomplete. Presentation of Case: A 2-month-old male infant was admitted for gen...