Clival encephalocele and 5q15 deletion: A case report

Surasak Puvabanditsin, Imran Malik, Eugene Garrow, Lissa Francois, Rajeev Mehta

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)505-508
Number of pages4
JournalJournal of Child Neurology
Volume30
Issue number4
DOIs
StatePublished - Mar 26 2015

All Science Journal Classification (ASJC) codes

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

Keywords

  • 5q15 deletion
  • clivus
  • congenital anomalies
  • encephalocele
  • neonate

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