期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 139A, 期 3, 页码 212-215出版社
WILEY
DOI: 10.1002/ajmg.a.31009
关键词
MPD; MOPD; Seckel; cerebral; vascular; stroke
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.
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