Dermatologic Findings in 16 Patients With Cockayne Syndrome and Cerebro-Oculo-Facial-Skeletal 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...

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

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

cerebro-oculo-nasal syndrome: a case report

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