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3C syndrome: third occurrence of cranio-cerebello-cardiac dysplasia (Ritscher-Schinzel syndrome)

✍ Scribed by A. Verloes; M.-F. Dresse; M. Jovanovic; P. Dodinval; F. Geubelle

Book ID: 115089869
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 410 KB
Volume: 35
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.1989.tb02929.x

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Ritscher-Schinzel syndrome or 3C (craniocerebello-cardiac) syndrome is characterized by cardiac defects, cerebellar vermis hypoplasia, and cranial defects. Nineteen cases were reported previously; however, the full spectrum of this disorder has not been determined. We have evaluated two unrelated ma