A novel frameshift mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report

O culo-facio-cardio-dental (OFCD) syndrome is a rare X chromosome-linked dominant genetic disease with multiple system and site abnormalities.The typical traits shown in this disease are: 1) eye abnormalities, notably congenital cataracts, microphthalmia, and secondary glaucoma; 2) facial deformities, in particular long and narrow face, high nasal bridge, nasal tip cartilage division, and cleft palate; 3) heart abnormalities, including atrial septal defect, interventricular septum defect, patent ductus arteriosus, tetralogy of Fallot,