cerebro-oculo-nasal syndrome: a case report

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...

Oculo-cerebro-renal syndrome. Report of a case in a baby girl.

The oculo-cerebro-renal syndrome of Lowe is characterized by failure to thrive, mental retardation, hypotonia, cataracts, glaucoma, amino-aciduria, and decreased renal ammonia formation (Lowe, Terrey, and MacLachlan, I952). A single report of a female with these findings exists in the literature (Svorc, Masopust, Komarkova, Macek, and Hya.nek, I967). In all other characteristic cases, the genet...

A Case of Branchio-oculo-facial Syndrome.

Branchio-oculo-facial syndrome (BOFS) is a rare, autosomal dominant disorder. It is characterized by distinct craniofacial abnormalities including abnormal location of the ears, aplastic cervical skin lesions, malformed auricles, conductive hearing loss, ocular abnormalities, and cleft lip and palate. Herein, we describe a case of BOFS with persistent aplasia cutis of the neck in a 5-year-old g...

Sarcoma of Nasal Cavity: A Case Report

This case report is a 65 year old woman from Kerman. Her main complian is nasal obstruction and recurrent nasal bleeding from five months ago. In clinical examination there was a large tumor in left nasal cavity. CT scaning revealed a large tumor in left nasal cavity and maxillary sinuse. The tumor is resected compeletely with negative safe margine by radical caldwell- luc approach. The origin ...