Horovitz D D, Barbosa Neto J G, Boy R, Vargas F R, Llerena Júnior J C, de Almeida J C
Centro de Genética Médica-Instituto Fernandes Figueira.
Am J Med Genet. 1995 Jul 17;57(4):605-9. doi: 10.1002/ajmg.1320570418.
We describe a family with Stanescu osteosclerosis. The propositus and his mother were short and had cortical sclerosis of the long bones, deficient facial sinus development, cranial bone malformations, and normal intelligence. To the best of our knowledge, only two such families have been described previously. The autosomal dominant pattern of inheritance of this skeletal dysplasia is reinforced, as there are many other reportedly affected relatives, including the maternal grandfather, uncles, and aunts of the propositus. The findings of wormian bones and calcification of the falx, not previously described, may be added to the phenotype.
我们描述了一个患有斯坦尼斯库骨硬化症的家族。先证者及其母亲身材矮小，长骨皮质硬化，面部鼻窦发育不全，颅骨畸形，智力正常。据我们所知，此前仅描述过两个这样的家族。这种骨骼发育异常的常染色体显性遗传模式得到了强化，因为还有许多其他据报道受影响的亲属，包括先证者的外祖父、舅舅和姨妈。此前未描述过的缝间骨和大脑镰钙化的发现，可能会被添加到该表型中。
