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Quintessence Publishing: Journals: QI
Quintessence International

Edited by Eli Eliav

ISSN 0033-6572 (print) • ISSN 1936-7163 (online)

Publication:
November 2008
Volume 39 , Issue 10

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Oculofaciocardiodental syndrome: Report of a rare case

Reddy S. Sujatha, BDS, MDS/Raghav Namita, BDS

Pages: 821825
PMID: 19093058

Oculofaciocardiodental syndrome is a very rare multiple congenital anomaly syndrome characterized by congenital cataracts, multiple minor facial dysmorphic features, congenital heart defects, and dental anomalies including canine radiculomegaly and oligodontia. It is unrecognized by many medical and dental professionals. Oculofaciocardiodental syndrome is inherited as an X-linked dominant condition and is lethal in males. Only 20 cases have been documented to date. The present case is that of an affected female who had congenital cataracts, microphthalmia, characteristic dental anomalies, and typical facial dysmorphism. (Quintessence Int 2008;39:821825)

Key words: canine radiculomegaly, congenital cataracts, dental anomalies, Marashi Gorlin, microphthalmia, septal heart defects

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