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

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...

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Bibliographic Details
Published inJournal of AAPOS Vol. 18; no. 4; pp. 393 - 395
Main Authors Brodsky, Michael C., MD, Turan, Kadriye Erkan, MD, Khanna, Cheryl L., MD, Patton, Alice, MD, Kirmani, Salman, MD
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.08.2014
Subjects
Actins - genetics
Cerebrovascular Disorders - genetics
Child
Echocardiography
Eye Diseases, Hereditary - genetics
Humans
Magnetic Resonance Angiography
Male
Mydriasis - genetics
Ophthalmology
Point Mutation
Prune Belly Syndrome - genetics
Retinoscopy
Visual Acuity
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Summary: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.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
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ObjectType-Report-1
ObjectType-Article-3
ISSN:1091-8531
1528-3933
DOI:10.1016/j.jaapos.2014.02.010