Kornak Uwe, Mundlos Stefan
Institute for Medical Genetics, Charité University Hospital, Campus Virchow, Berlin, Germany.
Am J Hum Genet. 2003 Sep;73(3):447-74. doi: 10.1086/377110. Epub 2003 Jul 31.
Although disorders of the skeleton are individually rare, they are of clinical relevance because of their overall frequency. Many attempts have been made in the past to identify disease groups in order to facilitate diagnosis and to draw conclusions about possible underlying pathomechanisms. Traditionally, skeletal disorders have been subdivided into dysostoses, defined as malformations of individual bones or groups of bones, and osteochondrodysplasias, defined as developmental disorders of chondro-osseous tissue. In light of the recent advances in molecular genetics, however, many phenotypically similar skeletal diseases comprising the classical categories turned out not to be based on defects in common genes or physiological pathways. In this article, we present a classification based on a combination of molecular pathology and embryology, taking into account the importance of development for the understanding of bone diseases.
虽然骨骼疾病个体罕见，但因其总体发病率而具有临床相关性。过去人们进行了许多尝试来识别疾病类别，以促进诊断并推断可能的潜在发病机制。传统上，骨骼疾病被细分为骨发育异常（定义为单个骨骼或骨骼组的畸形）和骨软骨发育不良（定义为软骨-骨组织的发育障碍）。然而，鉴于分子遗传学的最新进展，许多构成经典类别的表型相似的骨骼疾病结果并非基于共同基因或生理途径的缺陷。在本文中，我们提出一种基于分子病理学和胚胎学相结合的分类方法，同时考虑到发育对于理解骨骼疾病的重要性。
