Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies
Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies
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DOI：
10.1002/ajmg.a.31009
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发表时间：
2005-12-15
影响因子：
2
通讯作者：
Dallapiccola, B
中科院分区：
文献类型：
--
作者：
Brancati, F;Castori, M;Dallapiccola, B
我们报告了一名 2 9/12 岁男孩，患有不成比例的身材矮小、小头畸形、轻微的颅面畸形和全身骨骼发育不良，并出现左侧偏瘫。脑神经影像学显示复杂的脑血管异常（CVA），伴有右大脑前动脉狭窄和供应大脑皮层的毛细血管扩张侧支血管，与烟雾病一致。根据临床和骨骼特征，诊断为 Majewski 骨发育不良原始侏儒症 II 型 (MOPD II)。对 16 名已发表的受 Seckel 综合征或 MOPD II 影响的 CVA 患者的回顾表明，CVA 优先与后一种亚型相关，影响约 1/4 的患者。 (c) 2005 年 Wiley-Liss, Inc.
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. (c) 2005 Wiley-Liss, Inc.