Article: Expanding the Phenotypic and Genotypic Spectrum of Weaver Syndrome: A Missense Variant of the
2023 Volume 15, Issue 2, Page(s) 161–166
Abstract: Introduction: Weaver syndrome (WS) is a rare autosomal dominant disorder characterized by distinctive facial features, pre- and post-natal overgrowth, macrocephaly, and variable developmental delay. The characteristic facial features are ocular ... ...
| Abstract | Introduction: Weaver syndrome (WS) is a rare autosomal dominant disorder characterized by distinctive facial features, pre- and post-natal overgrowth, macrocephaly, and variable developmental delay. The characteristic facial features are ocular hypertelorism, a broad forehead, almond-shaped palpebral fissures and, in early childhood, large, fleshy ears, a pointed "stuck-on" chin with horizontal skin creases, and retrognathia. Heterozygous pathogenic/likely pathogenic variants in the enhancer of zeste homolog 2 ( Case presentation: Here, we report a male patient with a heterozygous likely pathogenic variant in EZH2 gene who has tall stature, distinctive facial features, mild development delay, hypoxic-ischemic encephalopathy with a MRI finding of periventricular leukomalacia, gingival hypertrophy, and early onset high hypermetropia. Conclusion: This case demonstrates the importance of reporting detailed molecular and clinical findings in patients to expand the genotypic and phenotypic findings of this rare syndrome. |
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| Language | English |
| Publishing date | 2023-09-28 |
| Publishing country | Switzerland |
| Document type | Journal Article |
| ZDB-ID | 2546218-0 |
| ISSN | 1661-8777 ; 1661-8769 |
| ISSN (online) | 1661-8777 |
| ISSN | 1661-8769 |
| DOI | 10.1159/000533733 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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