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小颌畸形的产前诊断及腭裂的产后诊断:一例报告

Prenatal diagnosis of micrognathia and postnatal identification of cleft soft palate: A case report.

作者信息

Singhania Saburi, Kashikar Shivali, Dhawan Vaishali, Parihar Pratapsingh

机构信息

Department of Radio-Diagnosis, Jawaharlal Nehru Medical College Wardha, Datta Meghe Institute of Higher Education and Research (DU), Wardha, India.

出版信息

Radiol Case Rep. 2025 Mar 15;20(6):2637-2641. doi: 10.1016/j.radcr.2025.02.028. eCollection 2025 Jun.

Abstract

This case report details the prenatal diagnosis of fetal micrognathia using advanced ultrasound techniques and highlights its role in anomaly detection and perinatal management. A 33-year-old primigravida presented for routine antenatal care at 30 weeks of gestation. Ultrasound revealed mandibular hypoplasia with an Inferior Facial Angle (IFA) of 46.2° (below the diagnostic threshold of 50°) and a reduced Jaw Index, confirming micrognathia. Three-dimensional ultrasound provided additional visualization of the retronasal triangle, where the absence of a normal mandibular gap further supported the diagnosis. Biometric parameters, including head circumference and femur length, were within normal limits. The neonate, delivered at 38 weeks via spontaneous labor, weighed 3.2 kg with Apgar scores of 8 and 9 at 1 and 5 minutes, respectively. Postnatal examination confirmed micrognathia and revealed a cleft soft palate, undetected on prenatal imaging. No airway intervention was required at birth, and surgical correction of the cleft palate was planned at 8 months of age. We present a case that underscores the reliability of prenatal ultrasound, particularly the use of objective criteria like IFA and Jaw Index, in diagnosing micrognathia. It also highlights the importance of multidisciplinary management for optimizing outcomes and addressing associated anomalies. The findings emphasize the need for comprehensive postnatal evaluation and continued advancements in prenatal imaging techniques.

摘要

本病例报告详细介绍了使用先进超声技术对胎儿小颌畸形进行产前诊断的情况,并强调了其在异常检测和围产期管理中的作用。一名33岁的初产妇在妊娠30周时前来进行常规产前检查。超声检查显示下颌发育不全,下颌下角度(IFA)为46.2°(低于诊断阈值50°),颌指数降低,确诊为小颌畸形。三维超声进一步显示了鼻后三角区,此处正常下颌间隙的缺失进一步支持了诊断。包括头围和股骨长度在内的生物测量参数均在正常范围内。该新生儿在38周时经自然分娩出生,体重3.2千克,1分钟和5分钟时的阿氏评分分别为8分和9分。产后检查确诊为小颌畸形,并发现了产前影像学检查未检测到的软腭裂。出生时无需气道干预,计划在8个月大时进行腭裂手术矫正。我们展示了一个病例,强调了产前超声在诊断小颌畸形方面的可靠性,特别是使用像下颌下角度和颌指数这样的客观标准。它还强调了多学科管理对于优化结果和处理相关异常情况的重要性。这些发现强调了产后全面评估的必要性以及产前成像技术的持续进步。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4613/11937608/f99fbb32413f/gr1.jpg

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