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Ritscher–Schinzel (cranio-cerebello-cardiac, 3C) syndrome: Report of four new cases with renal involvement

✍ Scribed by Mohammed Zein Seidahmed; Fowzan S. Alkuraya; Meeralebbae Shaheed; Mohammed Al Zahrani; Waleed Al Manea; Fayzeh Mansour; Tareq Mustafa; Gehan Farid; Mustafa A. Salih

Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 599 KB
Volume: 155
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.33966

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✦ Synopsis

Abstract

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.

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