| Literature DB >> 22987684 |
Irene Volonghi1, Michele Frigerio, Dikran Mardighian, Roberto Gasparotti, Elisabetta Del Zotto, Alessia Giossi, Paolo Costa, Loris Poli, Guido Jeannin, Gina A Gregorini, Alessandro Padovani, Alessandro Pezzini.
Abstract
Grange syndrome is a disorder characterized by arterial occlusive disease, hypertension, congenital cardiac defects, bone fragility, brachysyndactyly, and learning disabilities. It was first described in four members of the same family and in two sporadic cases thereafter, suggesting the possibility of various patterns of inheritance. We report on the case of an 18-year-old female presenting with subarachnoid hemorrhage due to the rupture of a basilar artery aneurysm, and with distinctive systemic features including extensive vasculopathy, facial dysmorphisms and brachysyndactyly, consistent with the diagnosis of Grange syndrome. Although rare and not fully characterized, Grange syndrome should be included in the differential diagnosis of stroke at young age.Entities:
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Year: 2012 PMID: 22987684 DOI: 10.1002/ajmg.a.35593
Source DB: PubMed Journal: Am J Med Genet A ISSN: 1552-4825 Impact factor: 2.802