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Titolo:
Severe arterial occlusive disorder and brachysyndactyly in a boy: A further case of Grange syndrome?
Autore:
Weymann, S; Yonekawa, Y; Khan, N; Martin, E; Heppner, FL; Schinzel, A; Kotzot, D;
Indirizzi:
Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland Univ Zurich Zurich Switzerland CH-8001 enet, CH-8001 Zurich, Switzerland Univ Zurich Hosp, Dept Neurosurg, CH-8091 Zurich, Switzerland Univ Zurich Hosp Zurich Switzerland CH-8091 CH-8091 Zurich, Switzerland Univ Zurich, Childrens Hosp, Dept Magnet Resonance, Zurich, Switzerland Univ Zurich Zurich Switzerland pt Magnet Resonance, Zurich, Switzerland Univ Zurich Hosp, Dept Neuropathol, CH-8091 Zurich, Switzerland Univ Zurich Hosp Zurich Switzerland CH-8091 CH-8091 Zurich, Switzerland
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 3, volume: 99, anno: 2001,
pagine: 190 - 195
SICI:
0148-7299(20010315)99:3<190:SAODAB>2.0.ZU;2-A
Fonte:
ISI
Lingua:
ENG
Soggetto:
FIBROMUSCULAR DYSPLASIA;
Keywords:
brachysyndactyly; celiac artery stenosis; fibromuscular dysplasia; Grange syndrome; Moyamoya disease; renal artery stenosis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
6
Recensione:
Indirizzi per estratti:
Indirizzo: Schinzel, A Univ Zurich, Inst Med Genet, Ramistr 74, CH-8001 Zurich, Switzerland Univ Zurich Ramistr 74 Zurich Switzerland CH-8001 Switzerland
Citazione:
S. Weymann et al., "Severe arterial occlusive disorder and brachysyndactyly in a boy: A further case of Grange syndrome?", AM J MED G, 99(3), 2001, pp. 190-195

Abstract

We report on a 15-year-old boy with stenosis and occlusion of multiple cranial, renal, and celiac arteries, aneurysm of the basilar artery, bilateralcutaneous 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 abdominalpain, 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 infour siblings (MIM#602531) Grange et ai, [1998: Am J Med Genet 75: 469-480], (C) 2001 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/12/20 alle ore 20:09:17