Case reports of oculofaciocardiodental syndrome with unusual dental findings
- 14 June 2005
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 136A (3) , 275-277
- https://doi.org/10.1002/ajmg.a.30811
Abstract
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 frameshift mutation with a premature stop codon, p.F871Lfs8X.Keywords
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