关键词: Congenital abnormalities Diagnostic imaging Orthopedics Prenatal Prenatal diagnosis Radioulnar synostosis Ultrasonography

Mesh : Child Female Pregnancy Humans Infant Synostosis / diagnostic imaging complications Radius / diagnostic imaging abnormalities Ulna / diagnostic imaging abnormalities Prenatal Diagnosis

来  源:   DOI:10.1016/j.tjog.2022.09.011

Abstract:
OBJECTIVE: The main objectives of this case report are to discuss prenatal ultrasound findings of congenital radioulnar synostosis and to review the literature.
METHODS: 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.
CONCLUSIONS: 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.
摘要:
目的:本病例报告的主要目的是讨论先天性桡骨滑膜的产前超声表现并复习文献。
方法:一名患者在8个月大的时候,父母发现孩子的左前臂运动受限,被诊断为先天性桡尺神经滑膜炎。父母否认有任何骨畸形的创伤或家族史。由儿科骨科专家进行的体格检查和数字X线摄影术显示,近端的桡骨滑膜。病例报告包括围产期过程,产后X线和胎儿超声图像之间的比较。
结论:先天性放射状神经滑膜常与性染色体异常和先天性肌肉骨骼疾病或影响四肢的综合征相关。孤立的先天性尺尖滑膜在出生前很难被诊断,在某些情况下,甚至在出生后被忽视。了解前臂和特定高危人群的发展里程碑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。
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