Kochar Puneet S, Soin Priti, Megahed Ayah
Department of Radiology, Penn State Health Milton S. Hershey Medical Center, Hershey, Pennsylvania.
Department of Pathology, Penn State Health Milton S. Hershey Medical Center, Hershey, Pennsylvania.
Proc (Bayl Univ Med Cent). 2021 Jan 28;34(3):419-421. doi: 10.1080/08998280.2020.1868245.
Achondroplasia is a genetic condition caused by disordered endochondral ossification, which leads to rhizomelic dwarfism and midfacial hypoplasia. Additionally, several morphologic changes in the temporal bone are thought to at least partially contribute to hearing loss in these patients. We present a patient with achondroplasia who presented with hearing loss and was referred to radiology for temporal bone imaging. High-resolution computed tomography of temporal bones demonstrated several interesting morphological abnormalities characteristic of achondroplasia.
软骨发育不全是一种由软骨内成骨紊乱引起的遗传性疾病，可导致短肢侏儒症和面部中部发育不全。此外，颞骨的一些形态学改变被认为至少部分导致了这些患者的听力损失。我们报告了一名患有软骨发育不全的患者，该患者出现听力损失，并被转诊至放射科进行颞骨成像。颞骨高分辨率计算机断层扫描显示了一些软骨发育不全特有的有趣形态学异常。
