Cerebro-oculo-facio-skeletal syndrome

ABSTRACT

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