Mowat-Wilson syndrome: a case report

  • 张立毅,张光运,曹开方,等
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  • 1. Peking University Health Science Center, Beijing 100191, China; 2. Xijing Hospital, Air Force Military Medical University, Xi’an 710032, Shaanxi, China; 3. Stomatology Hospital, Air Force Military Medical University, Xi’an 710032, Shaanxi, China

Online published: 2020-02-03

Abstract

 Objective To explore the clinical characteristics of Mowat-Wilson syndrome. Methods The clinical data and molecular genetic test results of Mowat-Wilson syndrome in a child were retrospectively analyzed, and the related literature was reviewed. Results A 3-year- and 10-month-old girl visited due to mental retardation and convulsions. She presented a distinctive facial appearance such as frontal bossing, hypertelorism, epicanthal folds, broad eyebrows, a broad nasal bridge, a prominent columella, a triangular chin and uplifted earlobes. Cardiovascular ultrasonography showed a bicuspid aortic valve malformation. Cranial magnetic resonance imaging revealed mild bilateral ventricular enlargement. Electroencephalogram monitoring showed that the epileptic discharge was localized in frontal and anterior temporal lobes. Genome sequencing and bioinformatics analysis showed a heterozygous mutation, c.164 delC, in exon 3 of ZEB2 gene, which resulted in the amino acid change of p.Pro55fs, and Mowat-Wilson syndrome was confirmed. Conclusion The ZEB2 gene mutation profile of Chinese Mowat-Wilson syndrome has been expanded.

Cite this article

张立毅,张光运,曹开方,等 . Mowat-Wilson syndrome: a case report[J]. Journal of Clinical Pediatrics, 2019 , 37(12) : 909 . DOI: 10.3969/j.issn.1000-3606.2019.12.008

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