Oculofaciocardiodental syndrome: a rare case and review of the literature

Cleft Palate Craniofac J. 2012 Sep;49(5):e55-60. doi: 10.1597/10-256. Epub 2011 Jul 8.

Abstract

Oculofaciocardiodental syndrome is a rare genetic disorder affecting ocular, facial, dental, and cardiac systems. The clinical diagnosis of oculofaciocardiodental syndrome can be challenging due to a wide variety of symptoms. Oculofaciocardiodental syndrome is found only in females due to its X-linked inheritance pattern and embryonic lethality for males. Radiculomegaly of canines is the most consistent finding in these patients. In this report we present a female patient with characteristic facial features, as well as a comprehensive overview of oculofaciocardiodental syndrome. Diagnosis of oculofaciocardiodental syndrome in this patient was verified by genetic analysis, during which we found a novel mutation in BCOR.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Adult
  • Cataract / congenital*
  • Cataract / diagnostic imaging
  • Cataract / genetics
  • Cataract / therapy
  • Cephalometry
  • Female
  • Heart Septal Defects / diagnostic imaging
  • Heart Septal Defects / genetics*
  • Heart Septal Defects / therapy
  • Humans
  • Microphthalmos / diagnostic imaging
  • Microphthalmos / genetics*
  • Microphthalmos / therapy
  • Mutation
  • Proto-Oncogene Proteins / genetics*
  • Radiography, Panoramic
  • Repressor Proteins / genetics*

Substances

  • BCOR protein, human
  • Proto-Oncogene Proteins
  • Repressor Proteins

Supplementary concepts

  • Microphthalmia, syndromic 2