Brancati Francesco, Castori Marco, Mingarelli Rita, Dallapiccola Bruno
Department of Biological Sciences, University G. D'Annunzio, Chieti, Italy.
Am J Med Genet A. 2005 Dec 15;139(3):212-5. doi: 10.1002/ajmg.a.31009.
We report on a 2 9/12-year-old boy with disproportionate short stature, microcephaly, subtle craniofacial dysmorphisms, and generalized skeletal dysplasia, who developed a left hemiparesis. Brain neuroimaging disclosed a complex cerebral vascular anomaly (CVA) with stenosis of the right anterior cerebral artery and telangiectatic collateral vessels supplying the cerebral cortex, consistent with moyamoya disease. Based on clinical and skeletal features, a diagnosis of Majewski osteodysplastic primordial dwarfism type II (MOPD II) was established. Review of 16 published patients with CVA affected by either Seckel syndrome or MOPD II suggested that CVA is preferentially associated to the latter subtype affecting about 1/4 of the patients.
我们报告了一名2又9/12岁的男孩，他身材比例失调矮小、小头畸形、有细微的颅面畸形和全身性骨骼发育异常，并且出现了左侧偏瘫。脑部神经影像学检查发现了一种复杂的脑血管异常（CVA），右侧大脑前动脉狭窄，并有供应大脑皮层的毛细血管扩张性侧支血管，符合烟雾病。根据临床和骨骼特征，诊断为II型Majewski骨发育异常原发性侏儒症（MOPD II）。对16例受CVA影响的Seckel综合征或MOPD II患者的文献回顾表明，CVA优先与后一种亚型相关，约1/4的患者受其影响。
