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 Kirmani

doi:10.1016/j.jaapos.2014.02.010

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 Kirmani

Research output: Contribution to journal › Article › peer-review

18 Citations (Scopus)

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 language	English (UK)
Pages (from-to)	393-395
Number of pages	3
Journal	Journal of AAPOS
Volume	18
Issue number	4
DOIs	https://doi.org/10.1016/j.jaapos.2014.02.010
Publication status	Published - Aug 2014
Externally published	Yes

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10.1016/j.jaapos.2014.02.010

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title = "Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation",

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.",

author = "Brodsky, \{Michael C.\} and Turan, \{Kadriye Erkan\} and Khanna, \{Cheryl L.\} and Alice Patton and Salman Kirmani",

note = "Funding Information: Supported in part by an unrestricted grant from Research to Prevent Blindness, New York , and Mayo Foundation, Rochester, Minnesota . Dr. Brodsky is the Knights Templar Professor of Ophthalmology. ",

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AU - Brodsky, Michael C.

AU - Turan, Kadriye Erkan

AU - Khanna, Cheryl L.

AU - Patton, Alice

AU - Kirmani, Salman

N1 - Funding Information: Supported in part by an unrestricted grant from Research to Prevent Blindness, New York , and Mayo Foundation, Rochester, Minnesota . Dr. Brodsky is the Knights Templar Professor of Ophthalmology.

PY - 2014/8

Y1 - 2014/8

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/84925884630

U2 - 10.1016/j.jaapos.2014.02.010

DO - 10.1016/j.jaapos.2014.02.010

M3 - Article

C2 - 24998021

AN - SCOPUS:84925884630

SN - 1091-8531

VL - 18

SP - 393

EP - 395

JO - Journal of AAPOS

JF - Journal of AAPOS

IS - 4

ER -

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

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