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

Brodsky M. C., ERKAN TURAN K., Khanna C. L., Patton A., Kirmani S.

JOURNAL OF AAPOS, vol.18, no.4, pp.393-395, 2014 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 18 Issue: 4
  • Publication Date: 2014
  • Doi Number: 10.1016/j.jaapos.2014.02.010
  • Journal Name: JOURNAL OF AAPOS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.393-395
  • Hacettepe University Affiliated: Yes

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.