Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails

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...

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

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].

Case of a completely absent facial artery

Introduction The facial artery generally arises from the anterior portion of the external carotid artery at a point a little above the lingual artery, and then runs forward under cover of the body of the mandible, and then is lodged in a groove on the posterior surface of the submandibular gland. It then curves upward over the body of the mandible at the anterior-inferior angle of the masseter ...