J Genet Med.  2011 Dec;8(2):130-134.

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

Affiliations
  • 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

Abstract

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.

Keyword

Craniosynostosis; Coronal synostosis; Brachycephaly; TWIST1
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