24Oct 2024
Unique Dental Phenotype in Oculo-Facio-Cardio-Dental Syndrome

Unique Dental Phenotype in Oculo-Facio-Cardio-Dental Syndrome

The study described five female cases of oculo-facio-cardio-dental syndrome (OFCD) from two Czech families, all of which exhibited dental abnormalities and congenital cataracts. Clinical examinations revealed variable signs, including facial dysmorphism, microphthalmia, and cardiac and skeletal defects. Orthopantomograms indicated radiculomegaly in three patients and agenesis of permanent teeth in two. Two novel pathogenic variants in the BCOR gene were identified, confirming the genetic basis of the syndrome. The findings emphasize the need for awareness of OFCD's dental phenotype and genetic testing for affected individuals.

  • #dentistry

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