Irving Melita D, Chitty Lyn S, Mansour Sahar, Hall Christine M
Department of Clinical Genetics, Guy's and St Thomas' Hospitals Foundation Trust, London, UK.
Clin Dysmorphol. 2008 Oct;17(4):229-41. doi: 10.1097/MCD.0b013e3282fdcc70.
Chondrodysplasia punctata (CDP) is associated with a number of disorders, including inborn errors of metabolism, involving peroxisomal and cholesterol pathways, embryopathy and chromosomal abnormalities. Several classification systems of the different types of CDP have been suggested earlier. More recently, the biochemical and molecular basis of a number of CDP syndromes has recently been elucidated and a new aetiological classification has emerged. Here we provide an updated version with an overview of the different types of CDP, a discussion of the aetiology and a description of the clinical and radiographic findings. An investigative guideline to help determine the exact diagnosis in new cases is also presented.
点状软骨发育不良（CDP）与多种疾病相关，包括代谢先天性缺陷，涉及过氧化物酶体和胆固醇途径、胚胎病及染色体异常。此前已提出多种不同类型CDP的分类系统。最近，一些CDP综合征的生化和分子基础已得到阐明，一种新的病因学分类应运而生。在此，我们提供一个更新版本，概述不同类型的CDP，讨论其病因，并描述临床和影像学表现。还提出了一项有助于确定新病例确切诊断的调查指南。
