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Ritscher–Schinzel (cranio‐cerebello‐cardiac, 3C) syndrome: Report of four new cases with renal involvement
Author(s) -
Seidahmed Mohammed Zein,
Alkuraya Fowzan S.,
Shaheed Meeralebbae,
Al Zahrani Mohammed,
Al Manea Waleed,
Mansour Fayzeh,
Mustafa Tareq,
Farid Gehan,
Salih Mustafa A.
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33966
Subject(s) - medicine , genetic syndromes , renal agenesis , agenesis , phenotype , anatomy , pediatrics , pathology , genetics , kidney , biology , gene
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.