Sethi Sonia, Thau Avrey, Kaplan Paige, Asher Stephanie B, Levin Alex V
Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, Pennsylvania.
Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
J AAPOS. 2019 Jun;23(3):169-171. doi: 10.1016/j.jaapos.2018.12.002. Epub 2019 Jan 29.
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.
我们报告了一例12岁女孩被诊断为患有具有新眼部特征的尼古拉德斯-巴拉伊泽综合征的病例。诊断基于临床特征，包括发育迟缓、头发稀疏、颅面特征以及SMARCA2基因的新发突变。眼部检查结果包括双侧青光眼、白内障和退行性玻璃体视网膜病变。鉴于不存在相关的可识别疾病，且这些眼部检查结果在普通人群中的患病率较低，我们认为这些眼部特征可能并非偶然关联。
