Abstract
We report the case of a 12-year-old girl diagnosed with Nicolaides-Baraitser syndrome with novel ocular features. Diagnosis was based on clinical features, including developmental delay, sparse hair, and craniofacial features along with de novo mutation in SMARCA2. Eye findings included bilateral glaucoma, cataracts, and degenerative vitreoretinopathy. Given the absence of an associated recognizable disorder and the low prevalence of these ocular findings in the general population, we suggest that these ocular features may not be chance association.
Copyright © 2019 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Abnormalities, Multiple*
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Child
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DNA Mutational Analysis
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Facies
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Female
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Foot Deformities, Congenital / diagnosis
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Foot Deformities, Congenital / genetics*
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Glaucoma / diagnosis
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Glaucoma / genetics*
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Humans
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Hypotrichosis / diagnosis
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Hypotrichosis / genetics*
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Intellectual Disability / diagnosis
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Intellectual Disability / genetics*
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Intraocular Pressure
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Mutation*
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Phenotype
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Retina / pathology
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Transcription Factors / genetics*
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Transcription Factors / metabolism
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Visual Acuity
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Vitreoretinopathy, Proliferative / diagnosis
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Vitreoretinopathy, Proliferative / genetics*
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Vitreous Body / pathology
Substances
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SMARCA2 protein, human
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Transcription Factors
Supplementary concepts
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Nicolaides Baraitser syndrome