J Genet Med.  2011 Dec;8(2):130-134.

Two Children with Saethre-Chotzen Syndrome Confirmed by the TWIST1 Gene Analysis

  • 1Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
  • 2Department of Medical Genetics, Ajou University School of Medicine, Suwon, Korea.
  • 3Department of Department of Neurosurgery, Ajou University School of Medicine, Suwon, Korea. ee80@ajou.ac.kr


Saethre-Chotzen syndrome is an autosomal dominant craniosynostosis syndrome, usually involving unior bilateral coronal synostosis and mild limb deformities, and is induced by loss-of-function mutations of the TWIST1 gene. Other clinical features of this syndrome include ptosis, low-set ears, hearing loss, hypertelorism, broad great toes, clinodactyly, and syndactyly. The authors of the present study report 2 children with clinical features of Saethre-Chotzen syndrome who showed mutations in the TWIST1 gene, and is the first molecular genetic confirmation of Saethre-Chotzen syndrome in Korea. The molecular genetic testing of the TWIST1 gene for patients with coronal synostoses is important to confirm the diagnosis and to provide adequate genetic counseling.


Craniosynostosis; Coronal synostosis; Brachycephaly; TWIST1
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