RESUMEN

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.

Asunto(s)

Adulto , Femenino , Humanos , Recién Nacido , Persona de Mediana Edad , Anomalías Múltiples/genética , Codón sin Sentido/genética , Anomalías del Ojo/genética , Cardiopatías Congénitas/genética , Anomalías Dentarias/genética , Anomalías Múltiples/diagnóstico , Anomalías del Ojo/diagnóstico , Genotipo , Cardiopatías Congénitas/diagnóstico , Fenotipo , Síndrome , Anomalías Dentarias/diagnóstico