Literature DB >> 24998021

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

Michael C Brodsky1, Kadriye Erkan Turan2, Cheryl L Khanna3, Alice Patton4, Salman Kirmani5.   

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.
Copyright © 2014 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

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Year:  2014        PMID： 24998021     DOI： 10.1016/j.jaapos.2014.02.010

Source DB:  PubMed          Journal:  J AAPOS        ISSN： 1091-8531            Impact factor:   1.220


  6 in total

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Authors:  Nida S Iqbal; Thomas A Jascur; Steven Harrison; Catherine Chen; Michelle K Arevalo; Daniel Wong; Emma Sanchez; Gwen Grimsby; Kathleen Wilson; Linda A Baker
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4.  Multisystem smooth muscle dysfunction syndrome in a Chinese girl: A case report and review of the literature.

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5.  Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene.

Authors:  Nida S Iqbal; Thomas A Jascur; Steven M Harrison; Angelena B Edwards; Luke T Smith; Erin S Choi; Michelle K Arevalo; Catherine Chen; Shaohua Zhang; Adam J Kern; Angela E Scheuerle; Emma J Sanchez; Chao Xing; Linda A Baker
Journal:  BMC Med Genet       Date:  2020-02-21       Impact factor: 2.103

6.  High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report.

Authors:  Aisling B Mc Glacken-Byrne; David Prentice; Danial Roshandel; Michael R Brown; Philip Tuch; Kyle S-Y Yau; Padma Sivadorai; Mark R Davis; Nigel G Laing; Fred K Chen
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  6 in total

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