Cerebro-oculo-facio-skeletal 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 ...

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

First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure.

Nucleotide excision repair (NER) is a genome caretaker mechanism responsible for removing helix-distorting DNA lesions, most notably ultraviolet photodimers. Inherited defects in NER result in profound photosensitivity and the cancer-prone syndrome xeroderma pigmentosum (XP) or two progeroid syndromes: Cockayne and trichothiodystrophy syndromes. The heterodimer ERCC1-XPF is one of two endonucle...

Syndromes of microcephaly, microphthalmia, cataracts, and joint contractures.

SUMMARY Three infants are described, one with the Neu-Laxova syndrome and two with the cerebro-oculo-facio-skeletal (COFS) syndrome. The relationship between these two syndromes is discussed in the light of the present cases and others in published reports. Pena and Shokeirl described ten infants with a syndrome consisting of microcephaly, microphthalmia, cataracts, and joint contractures and i...