Alanay Yasemin, Lachman Ralph S
Pediatric Genetics Unit, Department of Pediatrics, Faculty of Medicine, Acibadem University, Istanbul, Turkey.
J Clin Res Pediatr Endocrinol. 2011;3(4):163-78. doi: 10.4274/jcrpe.463.
There are more than 450 well-characterized skeletal dysplasias classified primarily on the basis of clinical, radiographic, and molecular criteria. In the latest 2010 revision of the Nosology and Classification of Genetic Skeletal Disorders, an increase from 372 to 456 disorders had occurred in the four years since the classification was last revisited in 2007. These entities in total represent about 5% of children with birth defects. An accurate diagnosis of a skeletal dysplasia is still based on detailed evaluation of clinical and radiographic [as well as chondro-osseous] findings. Regardless of the specific diagnosis, skeletal dysplasias in general share clinical and radiological findings helping us to group them in several ways. This review aims to outline the diagnostic approach to disproportionate short stature with special emphasis on radiological findings.
有超过450种特征明确的骨骼发育异常，主要根据临床、影像学和分子标准进行分类。在2010年最新版的《遗传性骨骼疾病的分类学和分类》中，自2007年上次修订分类以来的四年里，疾病数量从372种增加到了456种。这些疾病总共约占出生缺陷儿童的5%。骨骼发育异常的准确诊断仍然基于对临床和影像学（以及软骨-骨）表现的详细评估。无论具体诊断如何，骨骼发育异常总体上具有共同的临床和影像学表现，这有助于我们从几个方面对它们进行归类。本综述旨在概述对身材比例不协调的矮小症的诊断方法，特别强调影像学表现。
