Cerebro-oculo-facio-skeletal syndrome

J Coll Physicians Surg Pak. 2012 Sep;22(9):607-9.


Cerebro-oculo-facio-skeletal syndrome (COFSS) is a recessively inherited neurodegenerative disorder. We describe an 8 months old Saudi girl, a product of consanguineous parents with unremarkable pre-natal and postnatal history and birth weight 2 kg. She was having microcephaly, micrognathia, micro-ophthalmia, large low set ears, upper lip overhanging the lower lip and congenital contractures. Growth and development were severely retarded. MRI and MRS (magnetic resonance spectrometry) of brain displayed severe brain atrophy and hypo/demyelination of white matter. The relationship between COFSS and differential diagnoses, Cockayne syndrome (CS), Pena-Shokier phenotype (PSP) and Neu-Lexova syndrome (NLS) are discussed. Pre-natal diagnosis followed by appropriate management in time may be helpful to reduce its incidence in the community.

Publication types

  • Case Reports

MeSH terms

  • Brain / pathology
  • Cockayne Syndrome / complications
  • Cockayne Syndrome / genetics
  • Cockayne Syndrome / pathology*
  • Consanguinity
  • Diagnosis, Differential
  • Female
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Microcephaly / genetics
  • Microcephaly / pathology
  • Micrognathism / genetics
  • Micrognathism / pathology
  • Microphthalmos
  • Saudi Arabia