Hunter A G, Carpenter B F
Division of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.
Clin Genet. 1991 Jun;39(6):471-80. doi: 10.1111/j.1399-0004.1991.tb03060.x.
We report a patient whose clinical, radiologic and histopathologic findings are compatible with severe atelosteogenesis (AT-I). The patient is compared with previously reported cases of AT-I, as well as with patients reported as having "boomerang" dysplasia. We conclude that it is reasonable to consider AT-I and boomerang dysplasia as part of a spectrum, probably reflecting a common etiology. More and detailed clinical, radiologic and histopathologic reports are needed to further clarify the relationship of AT-II and AT-III in this family of skeletal dysplasias.
我们报告了一名患者，其临床、放射学和组织病理学表现与严重的无骨生成（AT-I型）相符。将该患者与先前报道的AT-I型病例以及被报道为患有“回飞镖”发育异常的患者进行了比较。我们得出结论，将AT-I型和回飞镖发育异常视为一个谱系的一部分是合理的，这可能反映了共同的病因。需要更多详细的临床、放射学和组织病理学报告，以进一步阐明这种骨骼发育异常家族中AT-II型和AT-III型之间的关系。
