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.
Department of Clinical Genetics, Our Lady's Children's Hospital Crumlin, Dublin, Ireland.
James J
http://orcid.org/0000-0003-3162-2411
JJ
O'Byrne
Department of Radiology, Temple Street Children's University Hospital, Dublin, Ireland.
Eoghan
E
Laffan
National Paediatric Craniofacial Centre, Temple Street Children's University Hospital, Dublin, Ireland.
Dylan J
DJ
Murray
Department of Clinical Genetics, Our Lady's Children's Hospital Crumlin, Dublin, Ireland.
William
W
Reardon
D002386:Cataract / Q000151:congenital* / Q000235:genetics / Q000503:physiopathology; D003398:Craniosynostoses / Q000235:genetics* / Q000503:physiopathology; D003638:Deafness / Q000235:genetics / Q000503:physiopathology; D005260:Female; D050172:Genes, X-Linked; D006343:Heart Septal Defects / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D006983:Hypertrichosis / Q000235:genetics / Q000503:physiopathology; D007223:Infant; D008850:Microphthalmos / Q000235:genetics* / Q000503:physiopathology; D010641:Phenotype; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051560:Proto-Oncogene Proteins c-bcl-6 / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*
C084103:BCL6 protein, human; C411984:BCOR protein, human; D011518:Proto-Oncogene Proteins; D051560:Proto-Oncogene Proteins c-bcl-6; D012097:Repressor Proteins
BCL 6 interacting co-repressor gene; Gorlin-Chaudhry-Moss syndrome; oculo-facio-cardio-dental syndrome