Cerebro-Oculo-Facio-Skeletal (COFS) Syndrome: Case Report
Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive genetic degenerative disorder of the brain and spinal cord that begins before birth. The originality of our clinical case is that the diagnosis of COFS was made in a 25 weeks and 5 days, on the basis of antenatal imagery data (ultrasound and specific MRI), namely an overall atrophy of the cerebral parenchyma and Ponto-cerebella under arachnoidians with cataract.
Authors
- H Bergaoui
- Ines Zouari (ORCID: https://orcid.org/0000-0003-2792-0723)
- Amina Mnejja
- Olfa Zoukar (ORCID: https://orcid.org/0000-0001-9746-3359)
- Dhekra Toumi (ORCID: https://orcid.org/0000-0001-7088-2940)
- Montacer Hafsi (ORCID: https://orcid.org/0000-0001-8826-7073)
- Imen Ghaddab (ORCID: https://orcid.org/0000-0002-7341-199X)
- R. Faleh
- El Ouaer M
- Ben Farhat
- H Mtir
- H Laazreg
Publication Details
- Journal
- SAS Journal of Medicine
- Published
- 2024-10-11
- DOI
- https://doi.org/10.36347/sasjm.2024.v10i10.021
- Primary Topic
- Ocular Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00