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New ocular finding in Baraitser-Winter syndrome (BWS).

Authors
  • Rall, Natalie1
  • Leon, Alejandro2
  • Gomez, Ricardo3
  • Daroca, Jessica4
  • Lacassie, Yves5
  • 1 Volunteer Children's Hospital, New Orleans, LA, USA.
  • 2 Department of Ophthalmology Children's Hospital, New Orleans, LA, USA.
  • 3 Department of Pediatrics, Division of Endocrinology, LSU Health Sciences Center and Children's Hospital, New Orleans, LA, USA.
  • 4 New Orleans, Louisiana, USA.
  • 5 Department of Pediatrics, LSU Health Sciences Center and Children's Hospital, New Orleans, LA, USA. Electronic address: [email protected]
Type
Published Article
Journal
European journal of medical genetics
Publication Date
Oct 09, 2017
Identifiers
DOI: 10.1016/j.ejmg.2017.10.006
PMID: 29024830
Source
Medline
Keywords
License
Unknown

Abstract

Baraitser-Winter syndrome was first described as a syndrome of iris coloboma, ptosis, hypertelorism, and mental retardation (Baraitser and Winter 1988; Baraitser, 2016). The phenotypic spectrum has since broadened to include other facial dysmorphic features, deafness, microcephaly, lissencephaly, and CNS findings (Baraitser and Winter 1988; Ganesh et al., 2005; Henedy et al., 2010; Verloes et al., 2015). The syndrome is due to pathogenic variants on either ACTB or ACTG1 genes (Di Donato et al., 2014; Rivière et al., 2012). There is still discussion which gene variant produces a more severe phenotype (Di Donato et al., 2016; Di Donato et al., 2014; Verloes et al., 2015). We report a 3-year-old girl with short stature, mild global developmental delay, minor brain anomalies and few dysmorphic features including unusual stroma of the irises and unreported corectopia. Exome sequencing reported a de novo likely pathogenic variant on the ACTB gene. The present report adds a new ocular finding to the phenotypic spectrum.

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