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Dentofacial Findings and Management of two Pediatric Patients With Bainbridge-Ropers Syndrome: A Case Report.

American journal of medical genetics. Part A - 1 Aug 2025

Aşık Aslı, Fırıncıoğulları Ezgi Cansu, Avcı Durmuşalioğlu Enise, Çoğulu Dilşah, Atik Tahir, Erdinç Aslıhan Mediha, Cogulu Ozgur

Abstract excerpt

Bainbridge-Ropers Syndrome(BPRS) is a rare autosomal dominant genetic disorder resulting from heterozygous mutations in the ASXL3(Additional Sex Comb-Like 3) gene located on chromosome 18q12. To date, only 45 cases have been documented in the literature. BPRS is characterized by a range of clinical features, including feeding difficulties, hypotonia, distinctive dysmorphic facial features, high-arched palate, and...

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Identifiers

PMID: 40237215
DOI: 10.1002/ajmg.a.64090

Genes

ASXL3

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

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Dentofacial Findings and Management of two Pediatric Patients With Bainbridge-Ropers Syndrome: A Case Report.PMID 40237215Read ↗

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