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Updated: Jun 19, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

Saethre-Chotzen syndrome: a case report.

William A Peña¹, Anne Slavotinek, Snehlata Oberoi

¹Division of Pediatric Dentistry, Department of Orofacial Sciences, School of Dentistry, University of California at San Francisco, San Francisco, California, USA.

The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association

|October 29, 2009

Summary

Saethre-Chotzen syndrome, a craniosynostosis disorder, is linked to TWIST1 gene mutations. A novel mutation, p.R191M, was identified in a patient, supporting its role in this genetic condition.

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Last Updated: Jun 19, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

Area of Science:

Genetics
Developmental Biology

Background:

Saethre-Chotzen syndrome (SCS), or acrocephalosyndactyly type III, is an autosomal dominant craniosynostosis disorder.
It shares clinical features with other craniosynostosis syndromes but is specifically caused by mutations in the TWIST1 gene.

Observation:

The TWIST1 gene encodes a transcription factor crucial for head and limb development.
Clinical manifestations of SCS include coronal synostosis, ptosis, hearing loss, and limb abnormalities.

Findings:

A novel sequence variant, p.R191M, in the TWIST1 gene was identified in a patient presenting with SCS.
This variant is located in the conserved Twist-box domain of the TWIST1 protein.

Implications:

The findings suggest the p.R191M variant is pathogenic, contributing to the Saethre-Chotzen syndrome phenotype.
This expands the known spectrum of TWIST1 mutations associated with craniosynostosis syndromes.