Prenatal ultrasonography and genetic analysis of fetal cleidocranial dysplasia: A case report.

IF 1 4区医学 Q3 MEDICINE, GENERAL & INTERNAL

World Journal of Clinical Cases Pub Date : 2025-04-06 DOI:10.12998/wjcc.v13.i10.97584

Feng Wang, Pei-Feng Dai, Wen-Juan Gao

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Abstract

Background: Cleidocranial dysplasia (CCD) is an infrequent clinical condition with an autosomal dominant inheritance pattern. It is characterized by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, and short stature. Approximately 60%-70% of patients with CCD have mutations in the RUNX family transcription factor 2 gene. However, prenatal diagnosis of CCD is difficult when the family history is unknown.

Case summary: We report a rare case of fetal CCD with an unknown family history, confirmed by prenatal ultrasonography and genetic testing at a gestational age of 16 weeks. The genetic reports indicated that the fetus carried pathogenic mutations in the RUNX family transcription factor 2 gene (c.674G>A). After careful consideration, the pregnant woman and her family decided to continue the pregnancy.

Conclusion: Definitive prenatal diagnosis of CCD should include family history, ultrasound diagnosis, and genetic analysis, especially if family history is unknown.

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背景：颅裂发育不良（CCD）是一种不常见的临床疾病，具有常染色体显性遗传模式。其特征是锁骨异常、骨缝和囟门闭锁、牙齿发育畸形和身材矮小。约有 60%-70% 的 CCD 患者存在 RUNX 家族转录因子 2 基因突变。然而，在家族史不明的情况下，CCD 的产前诊断非常困难。病例摘要：我们报告了一例罕见的家族史不明的胎儿 CCD 病例，该病例在胎龄 16 周时通过产前超声波检查和基因检测得到确诊。基因报告显示，胎儿携带 RUNX 家族转录因子 2 基因（c.674G>A）的致病突变。经过慎重考虑，孕妇及其家人决定继续妊娠：结论：CCD 的明确产前诊断应包括家族史、超声诊断和基因分析，尤其是在家族史不明的情况下。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

World Journal of Clinical Cases Medicine-General Medicine

自引率

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发文量

3384

期刊介绍： The World Journal of Clinical Cases (WJCC) is a high-quality, peer reviewed, open-access journal. The primary task of WJCC is to rapidly publish high-quality original articles, reviews, editorials, and case reports in the field of clinical cases. In order to promote productive academic communication, the peer review process for the WJCC is transparent; to this end, all published manuscripts are accompanied by the anonymized reviewers’ comments as well as the authors’ responses. The primary aims of the WJCC are to improve diagnostic, therapeutic and preventive modalities and the skills of clinicians and to guide clinical practice in clinical cases.