Ngo Anh-Vu, Thapa Mahesh, Otjen Jeffrey, Kamps Shawn E
Department of Radiology, Seattle Children's Hospital, Seattle, Washington.
Semin Musculoskelet Radiol. 2018 Feb;22(1):66-80. doi: 10.1055/s-0037-1608005. Epub 2018 Feb 6.
Skeletal dysplasia is a heterogeneous group of abnormalities affecting growth and development of bone and cartilage characterized by disproportionate shortening of the limbs and/or spine. A systematic radiographic approach combined with pertinent clinical details can help guide specific genetic testing and treatment. We provide a discussion and examples of a few common and notable skeletal dysplasias to help familiarize general, pediatric, and musculoskeletal radiologists who do not commonly encounter children with these entities in their daily practices.
骨骼发育异常是一组影响骨骼和软骨生长发育的异质性异常疾病，其特征为四肢和/或脊柱不成比例地缩短。系统的影像学检查方法结合相关临床细节有助于指导特定的基因检测和治疗。我们对一些常见且值得注意的骨骼发育异常进行讨论并举例，以帮助普通放射科医生、儿科放射科医生以及肌肉骨骼放射科医生熟悉这些疾病，他们在日常工作中通常不会经常遇到患有这些疾病的儿童。
