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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Severe arterial occlusive disorder and brachysyndactyly in a boy: a further case of Grange syndrome?

We report on a 15-year-old boy with stenosis and occlusion of multiple cranial, renal, and celiac arteries, aneurysm of the basilar artery, bilateral cutaneous syndactyly between fingers IV-V, partial cutaneous syndactyly between fingers III-IV on the right hand, brachydactyly, and borderline mental retardation. The clinical course was characterized by recurrent abdominal pain, gastritis, and high blood pressure. The pattern of the clinical and radiological findings is different from fibromuscular dysplasia ( FMD) and Moyamoya disease, and highly suggestive of a syndrome described by Grange in four siblings (MIM#602531) Grange et al. [1998: Am J Med Genet 75: 469-480].[1]

References

  1. Severe arterial occlusive disorder and brachysyndactyly in a boy: a further case of Grange syndrome? Weymann, S., Yonekawa, Y., Khan, N., Martin, E., Heppner, F.L., Schinzel, A., Kotzot, D. Am. J. Med. Genet. (2001) [Pubmed]
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