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

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Abstract

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 underdevelopment of the midface.

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