Coffin-Siris syndrome: a case report

  • 方丹枫,叶斌,余永国,等
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  • 1.Department of Pediatrics, Taizhou Central Hospital, Taizhou University School of Medicine, Taizhou 31800, Zhejiang, China; 2.Department of Endocrinology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China

Online published: 2020-09-17

Abstract

Objective To explore the clinical phenotype and gene abnormality of Coffin-Siris syndrome. Method The clinical data of Coffin-Siris syndrome in a child diagnosed by high-throughput sequencing technology were retrospectively analyzed, and the related literature was reviewed. Results A male child had feeding difficulties, growth retardation and special facial features after birth. Gene detection showed a mutation of c.6683C>A (p.Ser2228*) in ARID1B gene, , which was a de novo mutation and predicted to be pathogenic. Conclusion Coffin-Siris syndrome is a rare genetic disease and is difficult to diagnose in early stage, and genetic testing helps the diagnosis.

Cite this article

方丹枫,叶斌,余永国,等 . Coffin-Siris syndrome: a case report[J]. Journal of Clinical Pediatrics, 2020 , 38(9) : 704 . DOI: 10.3969/j.issn.1000-3606.2020.09.015

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