title: Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: clinical report and review of cerebral vascular anomalies.
abstract: 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.
authors.affiliation: Department of Biological Sciences, University G. D'Annunzio, Chieti, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Brancati
authors.forename: Marco
authors.initials: M
authors.lastname: Castori
authors.forename: Rita
authors.initials: R
authors.lastname: Mingarelli
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D001842:Bone and Bones / Q000000981:diagnostic imaging; D020785:Central Nervous System Vascular Malformations / Q000473:pathology*; D002536:Cerebral Arteries / Q000473:pathology; D002675:Child, Preschool; D004392:Dwarfism / Q000150:complications* / Q000175:diagnosis / Q000473:pathology*; D005260:Female; D006801:Humans; D008297:Male; D011859:Radiography; D020521:Stroke / Q000150:complications*