Case Report: The Success of Face Analysis Technology in Extremely Rare Genetic Diseases in Korea: Tatton-Brown-Rahman Syndrome and Say-Barber -Biesecker-Young-Simpson Variant of Ohdo Syndrome

Overview

Journal Front Genet

Date 2022 Aug 22

PMID 35991575

Authors

Sunha Park

Jaewon Kim

Tae-Young Song

Dae-Hyun Jang

Affiliations

Soon will be listed here.

Abstract

Tatton-Brown-Rahman syndrome (TBRS) and Say-Barber-Biesecker- Young-Simpson variant of Ohdo syndrome (SBBYSS) are extremely rare genetic disorders with less than 100 reported cases. Patients with these disorders exhibit a characteristic facial dysmorphism: TBRS is characterized by a round face, a straight and thick eyebrow, and prominent maxillary incisors, whereas SBBYSS is characterized by mask-like facies, blepharophimosis, and ptosis. The usefulness of Face2Gene as a tool for the identification of dysmorphology syndromes is discussed, because, in these patients, it suggested TBRS and SBBYSS within the top five candidate disorders. Face2Gene is useful for the diagnosis of extremely rare diseases in Korean patients, suggesting the possibility of expanding its clinical applications.

Citing Articles

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PMID: 37106005 PMC: 10140286. DOI: 10.1038/s41598-023-33374-x.

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