University of Arizona College of Medicine - Phoenix, 475 N. 5th St., Phoenix, AZ 85004, United States of America.
Dept. of Orthopedics, Phoenix Children's Hospital, 1919 E. Thomas Rd., Phoenix, AZ 85016, United States of America.
Clin Imaging. 2021 Oct;78:45-50. doi: 10.1016/j.clinimag.2021.02.041. Epub 2021 Mar 11.
We present a case of Klippel-Feil Syndrome, a congenital skeletal defect where multiple cervical vertebral bodies are fused. Klippel-Feil Syndrome has multiple associated anomalies, with a notable one being Sprengel's deformity. In this case, the patient was given a diagnosis of Klippel-Feil Syndrome prenatally after suspected cervical vertebrae fusion and Sprengel's deformity were seen on both fetal magnetic resonance imaging (MRI) and ultrasound. Prenatal diagnosis of Sprengel's deformity has been reported once in the literature. In this report, we present imaging findings of Sprengel's deformity seen in association with Klippel-Feil Syndrome using a combination of fetal ultrasound and MRI.
我们呈现了一例 Klippel-Feil 综合征病例，这是一种先天性骨骼缺陷，多个颈椎椎体融合。Klippel-Feil 综合征有多种相关的异常，其中一个显著的异常是 Sprengel 畸形。在这个病例中，患者在胎儿磁共振成像（MRI）和超声检查均显示疑似颈椎融合和 Sprengel 畸形后，被产前诊断为 Klippel-Feil 综合征。Sprengel 畸形的产前诊断在文献中仅报道过一次。在本报告中，我们使用胎儿超声和 MRI 联合的方法呈现了与 Klippel-Feil 综合征相关的 Sprengel 畸形的影像学发现。
