两例同胞患母体系统性红斑狼疮和点状软骨发育不良：表型模拟还是巧合？
Maternal systemic lupus erythematosus and chondrodysplasia punctata in two sibs: phenocopy or coincidence?
作者信息
Elçioglu N, Hall C M
机构信息
Department of Radiology, Great Ormond Street Hospital for Children NHS Trust, London, UK.
出版信息
J Med Genet. 1998 Aug;35(8):690-4. doi: 10.1136/jmg.35.8.690.
Abstract
Two sibs with chondrodysplasia punctata in whom the mother was suffering from systemic lupus erythematosus are presented and the radiological features described. Comparison with other forms of chondrodysplasia punctata with a review of the relevant publications is presented and the possible association with maternal systemic lupus erythematosus is highlighted.
摘要
本文报告了两名患有点状软骨发育不良的同胞兄妹，其母亲患有系统性红斑狼疮，并描述了相关放射学特征。文中将其与其他形式的点状软骨发育不良进行了比较，并回顾了相关文献，强调了与母亲系统性红斑狼疮可能存在的关联。
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