1. Identifying patients with EVEN‐plus syndrome using exome sequencing and clinical feature analysis: A case report.
- Author
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Li, Hua‐Wei, Ma, Bing‐Xiang, Kong, Ya‐Min, Zheng, Hong, and Zhang, Xue‐Yuan
- Subjects
DYSPLASIA ,EAST Asians ,ARNOLD-Chiari deformity ,SKELETAL dysplasia ,MAGNETIC resonance imaging ,FEMUR head ,GENETIC variation ,AGENESIS of corpus callosum - Abstract
Background: The EVEN‐plus syndrome (epiphyseal–vertebral–ear–nose dysplasia plus associated findings) is an extremely rare autosomal recessive inherited disease characterised by specific facial features and skeletal dysplasia. It has a prenatal onset due to defects in the HSPA9 gene. The syndrome has not been reported previously in China. Methods: This study reported the characteristics, examination results, diagnosis and treatment of a female case aged 3 years and 3 months. Results: The patient had global developmental delay and specific facial features, including a prominent forehead, a bilateral auricle deformity, a collapsed nose, a high palatine arch, a short neck and other appearance abnormalities. Her hip joint magnetic resonance imaging (MRI) results showed bilateral femoral head epiphyseal dysplasia with a fork‐shaped malformation at the distal end, and her brain MRI showed white matter myelin dysplasia. HSPA9 compound heterozygous variants c.882_c.883delAG and c.613A>G were identified by exome sequencing. Conclusions: This finding expands the spectra of EVEN‐plus syndrome phenotype and pathogenic variants and suggests that c.882_c.883delAG may have a higher distribution frequency in East Asian populations. [ABSTRACT FROM AUTHOR]
- Published
- 2022
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