Li Yi-Ying, Olisova Ksenia, Chen Yen-Ni, Chang Chia-Hsieh, Chang Tung-Yao
Department of Fetal Medicine, Taiji Clinic, Taiwan.
Department of Medical Research, Taiji Clinic, Taiwan.
Taiwan J Obstet Gynecol. 2023 Mar;62(2):334-335. doi: 10.1016/j.tjog.2022.09.011.
The main objectives of this case report are to discuss prenatal ultrasound findings of congenital radioulnar synostosis and to review the literature.
A patient was diagnosed with congenital radioulnar synostosis at eight months old when parents noticed limited motions in the child's left forearm. The parent denied any traumatic or family history of bony malformations. Physical examination by a pediatric orthopedics specialist and digital radiography revealed proximal radioulnar synostosis. The case report includes perinatal course, comparison between the postnatal radiography and fetal ultrasound images.
Congenital radioulnar synostosis is often associated with sex chromosome abnormalities and congenital musculoskeletal disorders or syndromes affecting limbs. Isolated congenital radioulnar synostosis is hardly diagnosed before birth, in some cases even have been neglected postnatally. Knowing the developmental milestones of the forearm and specified high-risk groups might help develop a targeted screening strategy to increase the possibility of early detection and intervention.
本病例报告的主要目的是讨论先天性桡尺骨融合的产前超声表现并复习相关文献。
一名患者在8个月大时被诊断为先天性桡尺骨融合，当时其父母注意到孩子左前臂活动受限。患儿父母否认有任何外伤史或骨骼畸形家族史。一名小儿骨科专家进行的体格检查和数字X线摄影显示为近端桡尺骨融合。该病例报告包括围产期过程、产后X线摄影与胎儿超声图像的对比。
先天性桡尺骨融合常与性染色体异常以及影响肢体的先天性肌肉骨骼疾病或综合征相关。孤立性先天性桡尺骨融合在出生前很难被诊断，在某些情况下甚至在出生后也被忽视。了解前臂的发育里程碑以及特定的高危人群可能有助于制定有针对性的筛查策略，以增加早期发现和干预的可能性。
