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J AAPOS. 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.

Author information

1
Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota. Electronic address: brodsky.michael@mayo.edu.
2
Department of Ophthalmology, Hacettepe University School of Medicine, Ankara, Turkey.
3
Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota.
4
Department of Medical Genetics Radiology, Mayo Clinic, Rochester, Minnesota.
5
Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota.

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.

PMID:
24998021
DOI:
10.1016/j.jaapos.2014.02.010
[Indexed for MEDLINE]

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