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

doi:10.12998/wjcc.v13.i10.97584

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Apr 6, 2025 (publication date) through Dec 24, 2024

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World Journal of Clinical Cases

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2307-8960

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Case Report

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/

Corresponding author: Wen-Juan Gao, Associate Chief Physician, Department of Ultrasonography, Weifang People’s Hospital, No. 151 Guangwen Street, Kuiwen District, Weifang 261000, Shandong Province, China. wfgao1977@163.com

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

Core Tip

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.