Wang F, Dai PF, Gao WJ. Prenatal ultrasonography and genetic analysis of fetal cleidocranial dysplasia: A case report. World J Clin Cases 2025; 13(10): 97584 [DOI: 10.12998/wjcc.v13.i10.97584]
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Cases. Apr 6, 2025; 13(10): 97584 Published online Apr 6, 2025. doi: 10.12998/wjcc.v13.i10.97584
Prenatal ultrasonography and genetic analysis of fetal cleidocranial dysplasia: A case report
Feng Wang, Pei-Feng Dai, Wen-Juan Gao
Feng Wang, Pei-Feng Dai, Wen-Juan Gao, Department of Ultrasonography, Weifang People’s Hospital, Weifang 261000, Shandong Province, China
Author contributions: Wang F wrote the first draft; Dai PF and Gao WJ commented on the manuscript; and all authors contributed to the study conception and design, data collection and analysis, and read and approved the final manuscript.
Supported by Science and Technology Development Plan Project of Weifang, No. 2023YX005.
Informed consent statement: All study participants, or their legal guardian, provided informed written consent prior to study enrollment.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Received: June 3, 2024 Revised: October 23, 2024 Accepted: December 10, 2024 Published online: April 6, 2025 Processing time: 198 Days and 21.8 Hours
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.
Core Tip: Cleidocranial dysplasia is rare and hidden condition, and many cases are gradually diagnosed after birth. Features include multiple teeth, partial or complete absence of the clavicle, delayed closure of the sagittal suture and fontanel, which have an adverse effect on physical and mental health. We report a rare case of fetal cleidocranial dysplasia with an unknown family history at 16 weeks gestation, confirmed by prenatal ultrasonography and genetic testing. This case can inform future clinicians to aid in timely and correct diagnosis.
