Prenatal diagnosis of the Cerebro-Oculo-Facio-Skeletal (COFS) syndrome

Cerebro-oculo-facio-skeletal syndrome

In this article, the author updates information on cerebro-oculo-facio-skeletal (COFS) syndrome. The condition is rare, with autosomal recessive inheritance, and manifests abnormal facies, ocular changes (eg, cataracts, retinal degeneration, microcornea, optic atrophy), in utero and postnatal growth retardation, severe psychomotor retardation, cerebral and cerebellar degeneration with calcifica...

Cerebro-oculo-facio-skeletal syndrome.

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. G...

[Anesthesia for intestinal obstruction in a six years old child with cerebro-oculo-facio-skeletal syndrome].

[Lowe's oculo-cerebro-renal syndrome].

A novel mosaic 22q11.2 micro-duplication syndrome: clinical report and literature review. Cerebro-oculo-facio-urethrogenito-skeletal syndrome: de novo condition

22q11.2 duplication syndrome (OMIM #608363) was first described by Edelmann in 1999 and later by other groups. The syndrome presented with clinically normal to varied spectrum of multisystem involvement. The 22q11.2 duplication syndrome in comparison to the 22q11.2 micro-deletion is a relatively rare condition which inherited autosomal dominantly or may occur as de novo condition. This article ...