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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Cerebroretinal Microangiopathy with Calcifications and Cysts (CRMCC)
American Journal of Medical Genetics, Part A, Volume 146, No. 2, Year 2008
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Description
Extensive intracranial calcifications and leukoencephalopathy are seen in both Coats plus and leukoencephalopathy with calcifications and cysts (LCC; Labrune syndrome). Coats plus syndrome is additionally characterized by the presence of bilateral retinal telangiectasia and exudates while LCC shows the progressive formation of parenchymal brain cysts. Despite these apparently distinguishing features, recent evidence suggests that Coats plus and LCC represent the same clinical entity with a common primary pathogenesis involving a small vessel obliterative microangiopathy. Here, we describe eight previously unreported cases, and present an update on one of the original Coats plus patients to highlight the emerging core clinical features of the "cerebroretinal microangiopathy with calcification and cysts" (CRMCC) phenotype. © 2007 Wiley-Liss, Inc.
Authors & Co-Authors
Briggs, Tracy A.
United Kingdom, Leeds
St James's University Hospital
Abdel-Salam, Ghada M.H.
Egypt, Giza
National Research Centre
Balicki, M.
Canada, Toronto
Hospital for Sick Children University of Toronto
Baxter, P.
United Kingdom, Sheffield
Sheffield Children's Hospital
Bertini, Enrico Silvio
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Bishop, Nick J.
United Kingdom, Sheffield
Sheffield Children's Hospital
Browne, B. H.
United Kingdom, Glasgow
Glasgow Royal Infirmary
Chitayat, David A.
Canada, Toronto
Hospital for Sick Children University of Toronto
Chong, Wui ‘Kling’
United Kingdom, London
Great Ormond Street Hospital for Children Nhs Foundation Trust
Eid, Maha Mohamed
Egypt, Giza
National Research Centre
Halliday, William C.
Canada, Toronto
Hospital for Sick Children University of Toronto
Hughes, Imelda
United Kingdom, Manchester
Royal Manchester Children's Hospital
Klusmann-Koy, A.
United Kingdom, London
Great Ormond Street Hospital for Children Nhs Foundation Trust
Germany, Dusseldorf
Universitätsklinikum Düsseldorf
Kurian, M.
United Kingdom, Doncaster
Doncaster and Bassetlaw Teaching Hospitals Nhs Foundation Trust
Nischal, K. K.
United Kingdom, London
Great Ormond Street Hospital for Children Nhs Foundation Trust
Rice, Gillian I.
United Kingdom, Leeds
St James's University Hospital
Stephenson, J. B.P.
United Kingdom, Glasgow
Royal Hospital for Sick Children
Surtees, Robert A.H.
United Kingdom, London
Great Ormond Street Hospital for Children Nhs Foundation Trust
Talbot, J. F.
United Kingdom, Sheffield
Royal Hallamshire Hospital
Tehrani, N. N.
Canada, Toronto
Hospital for Sick Children University of Toronto
Tolmie, J. L.
United Kingdom, Glasgow
Royal Hospital for Sick Children
Toomes, Carmel
United Kingdom, Leeds
St James's University Hospital
van der Knaap, Marjo S.
Netherlands, Amsterdam
Amsterdam Umc - Vrije Universiteit Amsterdam
Yanick J. Crow, Yanick
United Kingdom, Leeds
St James's University Hospital
United Kingdom, Bradford
Nhs Foundation Trust
Statistics
Citations: 99
Authors: 24
Affiliations: 14
Identifiers
Doi:
10.1002/ajmg.a.32080
ISSN:
15524825
e-ISSN:
15524833
Research Areas
Health System And Policy