Dental abnormalities observed in the oculo-facio-cardio-dental (OFCD) syndrome present in two Czech families bearing novel de novo BCOR pathogenic variants
The OFCD syndrome has a unique dental phenotype and dentists should be aware of signs of this ultra-rare genetic disorder. All patients with congenital cataracts and dental abnormalities, including those without a family history, should be referred for genetic testing and indicated to specialised dental care.
Authors
- Petra Lišková (ORCID: https://orcid.org/0000-0001-7834-8486)
- Milan Maçek (ORCID: https://orcid.org/0000-0002-5173-5280)
- Adam Nocar (ORCID: https://orcid.org/0000-0002-7676-6163)
- Markéta Havlovičová (ORCID: https://orcid.org/0000-0002-1477-8484)
- Tatjana Dostalova
- Marketa BATKOVA
Institutions
- Charles University (CZ)
- University Hospital in Motol (CZ)
- General University Hospital in Prague (CZ)
Publication Details
- Journal
- BMC Oral Health
- Published
- 2024-10-22
- DOI
- https://doi.org/10.1186/s12903-024-05005-y
- Citations
- 1
- Primary Topic
- Ocular Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.55
Funders
- Grantová Agentura České Republiky
- Agentura Pro Zdravotnický Výzkum České Republiky
- European Accounting Association