Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies
Article first published online: 8 NOV 2005
Copyright © 2005 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 139A, Issue 3, pages 212–215, 15 December 2005
How to Cite
Brancati, F., Castori, M., Mingarelli, R. and Dallapiccola, B. (2005), Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies. Am. J. Med. Genet., 139A: 212–215. doi: 10.1002/ajmg.a.31009
- Issue published online: 21 NOV 2005
- Article first published online: 8 NOV 2005
- Manuscript Accepted: 31 AUG 2005
- Manuscript Received: 19 MAY 2005
- Italian Ministry of Health
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. © 2005 Wiley-Liss, Inc.