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


Weymann, Sibylla; Yonekawa, Yasuhiro; Khan, Nadia; Martin, Ernst; Heppner, Frank L; Schinzel, Albert; Kotzot, Dieter (2001). Severe arterial occlusive disorder and brachysyndactyly in a boy: A further case of Grange syndrome? American Journal of Medical Genetics, 99(3):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, 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.

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, 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.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
04 Faculty of Medicine > Institute of Medical Genetics
04 Faculty of Medicine > University Hospital Zurich > Clinic for Neurosurgery
04 Faculty of Medicine > University Hospital Zurich > Institute of Neuropathology
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), brachysyndactyly, celiac artery stenosis, fibrromuscular dysplasia, Grange syndrome, Moyamoya disease, renal artery stenosis
Language:English
Date:5 February 2001
Deposited On:28 Jun 2023 06:01
Last Modified:29 Apr 2024 01:38
Publisher:Wiley-Blackwell Publishing, Inc.
ISSN:0148-7299
OA Status:Closed
Publisher DOI:https://doi.org/10.1002/1096-8628(2001)9999:9999<::aid-ajmg1138>3.0.co;2-r
PubMed ID:11241488