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Cerebro-Oculo-Facio-Skeletal (COFS) Syndrome: Case Report

Year: 2024

Type: article

Abstract: 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.

Source: SAS Journal of Medicine

DOI: 10.36347/sasjm.2024.v10i10.021

Authors: Ghaddab I, Bergaoui H, Toumi D, Zouari I, El Ouaer M, Ben Farhat I, Mnejja A, Mtir H, Laazreg H, Hafsi M, Zoukar O, Faleh R

Language: English

Topic: Fetal and Pediatric Neurological Disorders

Subfield: Pediatrics, Perinatology and Child Health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4403464992

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