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Article

Oculo-facio-cardio-dental syndrome with craniosynostosis, temporal hypertrichosis, and deafness.

American journal of medical genetics. Part A - 1 May 2017

O'Byrne James J, Laffan Eoghan, Murray Dylan J, Reardon William

Abstract excerpt

We report the case of a 7-month-old girl with atypical oculo-facio-cardio-dental syndrome (OFCD). A novel de novo pathogenic mutation in the BCL6 interacting co-repressor gene (BCOR) (c.4540C>T; p.Arg1514*), was identified on the X chromosome. This case expands the phenotype of OFCD as it is the first report of a case presenting with craniosynostois, temporal hypertrichosis, supraorbital grooving, and...

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Identifiers

PMID: 28317252
DOI: 10.1002/ajmg.a.38128

Genes

BCL6
BCOR

Variants

Provenance

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Oculo-facio-cardio-dental syndrome with craniosynostosis, temporal hypertrichosis, and deafness.PMID 28317252Read ↗

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