Cho Sung Yoon, Jin Dong-Kyu
Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Ann Pediatr Endocrinol Metab. 2015 Dec;20(4):187-91. doi: 10.6065/apem.2015.20.4.187. Epub 2015 Dec 31.
Skeletal dysplasia (SD) is a kind of heterogeneous genetic disorder characterized by abnormal growth, development, differentiation, and maintenance of the bone and cartilage. The patients with SD most likely to be seen by a pediatrician or orthopedic surgeon are those who present with short stature in childhood. Because each category has so many diseases, classification is important to understand SD better. In order to diagnose a SD accurately, clinical and radiographic findings should be evaluated in detail. In addition, genetic diagnosis of SD is important because there are so various SDs with complex phenotypes. To reach an exact diagnosis of SDs, cooperative approach by a clinician, a radiologist and a geneticist is important. This review aims to provide an outline of the diagnostic approach for children with disproportional short stature.
骨骼发育异常（SD）是一种异质性遗传疾病，其特征为骨骼和软骨的生长、发育、分化及维持出现异常。儿科医生或骨科医生最常诊治的SD患者是那些在儿童期出现身材矮小的患者。由于每个类别包含众多疾病，因此进行分类对于更好地理解SD很重要。为了准确诊断SD，应详细评估临床和影像学检查结果。此外，SD的基因诊断也很重要，因为存在多种具有复杂表型的SD。为了准确诊断SD，临床医生、放射科医生和遗传学家的协作方法很重要。本综述旨在概述对身材不成比例矮小儿童的诊断方法。
