Unveiling Cleidocranial Dysplasia: An Antenatal Journey Through Ultrasound and Delivering the Importance of Taking Phenotype History; "Echoes of the Past".

IF 1.2 4区医学 Q3 ACOUSTICS

Journal of Clinical Ultrasound Pub Date : 2025-05-15 DOI:10.1002/jcu.24082

Revati Tekwani, Hemangini Thakkar, Aadesh Singh Parmar

引用次数: 0

Abstract

Cleidocranial dysplasia (CCD) is an inherited condition predominantly affecting the clavicles and cranial structures. Advancements in prenatal imaging offer the potential for early detection. A 30-year-old pregnant woman came in for a review of 2nd trimester anomaly scan. The ultrasound suggested a diagnosis of non-lethal skeletal dysplasia. Both parents were called in for counseling. The father was observed to have facial dysmorphism. An X-ray examination clinched the final diagnosis of cleidocranial dysplasia, which was confirmed through whole exome sequencing. This case report highlights the antenatal detection of cleidocranial dysplasia and emphasizes the crucial role of taking family history in a suspected case of skeletal dysplasia.

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揭示锁骨颅发育不良：超声产前之旅及记录表型史的重要性“往昔的回声”。

锁骨颅骨发育不良（CCD）是一种主要影响锁骨和颅骨结构的遗传性疾病。产前成像技术的进步为早期发现提供了可能。一位30岁的孕妇来复查妊娠中期异常扫描。超声提示诊断为非致死性骨骼发育不良。双方父母都被叫去做心理咨询。父亲被观察到有面部畸形。x线检查确定了锁骨颅骨发育不良的最终诊断，这是通过全外显子组测序证实的。本病例报告强调了锁骨颅骨发育不良的产前检测，并强调了在疑似骨骼发育不良病例中，家族史的关键作用。

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

Journal of Clinical Ultrasound 医学-核医学

CiteScore

1.90

自引率

0.00%

发文量

248

审稿时长

6 months

期刊介绍： The Journal of Clinical Ultrasound (JCU) is an international journal dedicated to the worldwide dissemination of scientific information on diagnostic and therapeutic applications of medical sonography. The scope of the journal includes--but is not limited to--the following areas: sonography of the gastrointestinal tract, genitourinary tract, vascular system, nervous system, head and neck, chest, breast, musculoskeletal system, and other superficial structures; Doppler applications; obstetric and pediatric applications; and interventional sonography. Studies comparing sonography with other imaging modalities are encouraged, as are studies evaluating the economic impact of sonography. Also within the journal''s scope are innovations and improvements in instrumentation and examination techniques and the use of contrast agents. JCU publishes original research articles, case reports, pictorial essays, technical notes, and letters to the editor. The journal is also dedicated to being an educational resource for its readers, through the publication of review articles and various scientific contributions from members of the editorial board and other world-renowned experts in sonography.