Case reports of oculofaciocardiodental syndrome with unusual dental findings

We report on two new cases of oculofaciocardiodental (OFCD) syndrome characterized by cataracts, microphthalmia, facial anomalies, cleft palate, cardiac septal defects, and canine radiculomegaly. We also review previous patients. The syndrome is caused by mutations in the BCOR gene, which maps to Xp11.4. Mutational analysis in one of our patients showed a deletion of a single nucleotide, c.2613delC, predicting a novel frame-shift mutation with a premature stop codon, p.F871Lfs8X. (c) 2005 Wiley-Liss, Inc.