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Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies
Author(s) -
Brancati Francesco,
Castori Marco,
Mingarelli Rita,
Dallapiccola Bruno
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31009
Subject(s) - medicine , microcephaly , dwarfism , short stature , hemiparesis , dysplasia , stroke (engine) , achondroplasia , moyamoya disease , heterotopia (medicine) , cardiology , radiology , anatomy , pediatrics , biology , angiography , mechanical engineering , biochemistry , gene , engineering
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.