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Article

Raine syndrome: Report of a novel mutation and review of the different antenatal imaging modalities used to diagnose this disease.

Prenatal diagnosis - 1 May 2022

Rameh Georges, Megarbane Andre, Jalbout Liliane, Snaifer Elie, Saliba Souha, Nassar Anwar, Chalouhi Gihad

Abstract excerpt

INTRODUCTION: Raine syndrome is an autosomal recessive disorder characterized mainly by the presence of exophthalmos, choanal atresia or stenosis, osteosclerosis, and cerebral calcifications. There are around 50 cases described in the literature with a prevalence of less than 1/1,000,000. It is secondary to pathogenic variants in the FAM20 C gene, located on chromosome 7p22.3. CASE REPORT: We report a...

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PMID: 35373843
DOI: 10.1002/pd.6138

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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