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Case Reports
. 2014 Aug;18(4):393-5.
doi: 10.1016/j.jaapos.2014.02.010. Epub 2014 Jul 3.

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

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Case Reports

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

Michael C Brodsky et al. J AAPOS. 2014 Aug.

Erratum in

  • J AAPOS. 2014 Oct;18(5):518

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.

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