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

Am J Med Genet A. 2017 May;173(5):1374-1377. doi: 10.1002/ajmg.a.38128. Epub 2017 Mar 20.

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.

Keywords: BCL 6 interacting co-repressor gene; Gorlin-Chaudhry-Moss syndrome; oculo-facio-cardio-dental syndrome.

Publication types

  • Case Reports

MeSH terms

  • Cataract / congenital*
  • Cataract / genetics
  • Cataract / physiopathology
  • Craniosynostoses / genetics*
  • Craniosynostoses / physiopathology
  • Deafness / genetics
  • Deafness / physiopathology
  • Female
  • Genes, X-Linked
  • Heart Septal Defects / genetics*
  • Heart Septal Defects / physiopathology
  • Humans
  • Hypertrichosis / genetics
  • Hypertrichosis / physiopathology
  • Infant
  • Microphthalmos / genetics*
  • Microphthalmos / physiopathology
  • Phenotype
  • Proto-Oncogene Proteins / genetics*
  • Proto-Oncogene Proteins c-bcl-6 / genetics*
  • Repressor Proteins / genetics*

Substances

  • BCL6 protein, human
  • BCOR protein, human
  • Proto-Oncogene Proteins
  • Proto-Oncogene Proteins c-bcl-6
  • Repressor Proteins

Supplementary concepts

  • Microphthalmia, syndromic 2