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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome: Report of four new cases with renal involvement
American Journal of Medical Genetics, Part A, Volume 155, No. 6, Year 2011
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Description
Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome is a multiple congenital anomaly syndrome that is considered to be autosomal recessive although no genetic defect has yet been identified. In a consanguineous Saudi family, we have identified four patients who meet the diagnostic criteria of 3C syndrome and who also have alopecia, camptodactaly and significant renal involvement. Interestingly, two otherwise normal female siblings have unilateral renal agenesis only. This report expands the phenotypic spectrum of 3C syndrome. © 2011 Wiley-Liss, Inc.
Authors & Co-Authors
Seidahmed, Mohammed Zain
Saudi Arabia, Riyadh
Security Forces Hospital Program Riyadh
Alkuraya., Fowzan S.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Saudi Arabia, Riyadh
King Khalid University Hospital
Saudi Arabia, Riyadh
College of Medicine Alfaisal University
Shaheed, Meeralebbae M.
Saudi Arabia, Riyadh
Security Forces Hospital Program Riyadh
Al-Zahrani, Mohammed A.
Saudi Arabia, Riyadh
Security Forces Hospital Program Riyadh
Al Manea, Waleed
Saudi Arabia, Riyadh
Security Forces Hospital Program Riyadh
Mansour, Fayzeh
Saudi Arabia, Riyadh
Security Forces Hospital Program Riyadh
Mustafa, Tareq
Saudi Arabia, Riyadh
Security Forces Hospital Program Riyadh
Farid, Gehan
Saudi Arabia, Riyadh
Security Forces Hospital Program Riyadh
Salih, Mustafa Abdalla M.
Saudi Arabia, Riyadh
College of Medicine
Statistics
Citations: 13
Authors: 9
Affiliations: 5
Identifiers
Doi:
10.1002/ajmg.a.33966
ISSN:
15524825
e-ISSN:
15524833
Research Areas
Genetics And Genomics
Noncommunicable Diseases
Participants Gender
Female