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

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.

Source: American Journal of Medical Genetics Part A - March 19, 2017 Category: Genetics & Stem Cells Authors: James J. O'Byrne, Eoghan Laffan, Dylan J. Murray, William Reardon Tags: CLINICAL REPORT Source Type: research