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Article

Dental abnormalities observed in the oculo-facio-cardio-dental (OFCD) syndrome present in two Czech families bearing novel de novo BCOR pathogenic variants.

BMC oral health - 22 Oct 2024

Batkova M, Havlovicova M, Nocar A, Dudakova L, Macek M, Liskova Petra, Dostalova Tatjana

Abstract excerpt

BACKGROUND: The oculo-facio-cardio-dental syndrome (OFCD) is an ultra-rare multiple congenital anomaly. This report describes clinical findings emphasising dental phenotype in five, molecularly confirmed, female cases from two Czech families. CASE PRESENTATION: Dental examinations were carried out. An orthopantomogram was taken in three patients, and all patients' intraoral cavities and teeth were photographed....

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Identifiers

PMID: 39438869
DOI: 10.1186/s12903-024-05005-y
PMCID: PMC11494979

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