Jurenka S B, Van Allen M I
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Am J Med Genet. 1995 May 22;57(1):6-9. doi: 10.1002/ajmg.1320570103.
We present a 40-year-old man with mental retardation, short stature, minor anomalies, and seizures, who was found to have osteopoikilosis with melorheostosis (mixed sclerosing bone dysplasia, MSBD). Cytogenetic findings of a low level trisomy 8 mosaicism were not confirmed by fluorescence in situ hybridization (FISH) of fibroblast cells. To our knowledge, the association of MSBD and mental retardation has not been previously reported.
我们报告一名40岁男性，有智力发育迟缓、身材矮小、轻微异常及癫痫发作，被发现患有骨斑点症合并线状骨硬化症（混合性硬化性骨发育异常，MSBD）。成纤维细胞的荧光原位杂交（FISH）未证实细胞遗传学检查发现的低水平8号染色体三体镶嵌现象。据我们所知，此前尚未有MSBD与智力发育迟缓相关联的报道。
