Case report of a neonate with cleidocranial dysplasia caused by novel RUNX2 mutation

doi:10.3969/j.issn.1004-583X.2021.01.013

Abstract

Abstract:

Cleidocranial dysplasia (CCD) is a rare autosomal dominant hereditary disease with multiple skeletal dysplasia. Its pathogenic gene is RUNX2 located at chromosome 6p21. The clinical manifestations of CCD are diverse, and the management of its treatment requires multidisciplinary cooperation. Early diagnosis and treatment are essential to correct malformations and improve the life quality of patients. The clinical manifestations of CCD in the neonatal period are incomplete, and the abnormal clavicle is easily misdiagnosed as fracture. This paper summarizes the clinical characteristics of a newborn CCD caused by novel RUNX2 mutation, and reports the new mutation sites so as to improve clinicians' understanding of the disease and provide a reference for exploring the molecular genetic mechanism of CCD pathogenesis.

Key words: cleidocranial dysplasia, RUNX2 gene, infant, newborn

CLC Number:

R681.1

Li Na, Zhang Fang, Hao Lihong, Liu Yang. Case report of a neonate with cleidocranial dysplasia caused by novel RUNX2 mutation[J]. Clinical Focus, 2021, 36(1): 62-65.

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URL: https://huicui.hebmu.edu.cn/EN/10.3969/j.issn.1004-583X.2021.01.013

https://huicui.hebmu.edu.cn/EN/Y2021/V36/I1/62

Figures/Tables 6

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