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Quintessence International



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Quintessence Int 39 (2008), No. 10     6. Oct. 2008
Quintessence Int 39 (2008), No. 10  (06.10.2008)

Page 821-825, PubMed:19093058

Oculofaciocardiodental syndrome: Report of a rare case
Sujatha, Reddy S. / Namita, Raghav
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.

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