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. 2012 Dec;45(12):1315-9.
doi: 10.1590/s0100-879x2012007500150. Epub 2012 Sep 18.

Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features

B Lozić  1 , J Ljubković, D Gabrić Pandurić, I Saltvig, K Kutsche, V Krželj, T Zemunik
Affiliations

Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features

B Lozić et al. Braz J Med Biol Res. 2012 Dec.

Abstract

Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked disorder mainly manifesting in females. Patients show ocular, facial, cardiac, and dental abnormalities. OFCD syndrome is caused by heterozygous mutations in the BCOR gene, located in Xp11.4, encoding the BCL6 co-repressor. We report a Croatian family with four female members (grandmother, mother and monozygotic female twins) diagnosed with OFCD syndrome who carry the novel BCOR mutation c.4438C>T (p.R1480*). They present high intrafamilial phenotypic variability with special regard to cardiac defect and cataract that showed more severe disease expression in successive generations. Clinical and radiographic examination of the mother of the twins revealed a talon cusp involving the permanent maxillary right central incisor. This is the first known report of a talon cusp in OFCD syndrome with a novel mutation in the BCOR gene.

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Figures

Figure 1.
Figure 1.. Dysmorphic facial features typical of oculo-facio-cardio-dental (OFCD) syndrome in the 32-year-old mother and her 1-year-old monozygotic twins.
Figure 2.
Figure 2.. A, Intraoral photograph of the twins' mother showing talon cusp of the maxillary right central incisor. B, Orthopantomogram of the twins' mother.
See this image and copyright information in PMC

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