AI Article Synopsis
- A 12-year-old girl was diagnosed with Nicolaides-Baraitser syndrome, exhibiting new eye-related symptoms.
- Diagnosis was confirmed through clinical signs like developmental delay and a mutation in the SMARCA2 gene.
- The girl's eye conditions included glaucoma, cataracts, and vitreoretinopathy, indicating that these ocular issues could be significantly linked to her syndrome rather than coincidental.
Article 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.
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| http://dx.doi.org/10.1016/j.jaapos.2018.12.002 | DOI Listing |
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