Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation

Michael C. Brodsky, Kadriye Erkan Turan, Cheryl L. Khanna, Alice Patton, Salman B Kirmani

Research output: Contribution to journalArticle

13 Scopus citations

Abstract

We report the association of congenital mydriasis with prune belly syndrome and cerebrovascular anomalies in a 9-year-old boy who was found to have an ACTA2 mutation. This case illustrates the spectrum of systemic malformations that are attributable to mutations in ACTA2 and expands the spectrum of cerebrovascular anomalies that are now known to accompany congenital mydriasis.

Original languageEnglish (US)
Pages (from-to)393-395
Number of pages3
JournalJournal of AAPOS
Volume18
Issue number4
DOIs
StatePublished - Aug 2014

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology

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