Clinical and genetic analysis of patients with Saethre-Chotzen syndrome.

Background: Saethre-Chotzen syndrome is a craniosynostosis syndrome further characterized by distinctive facial and limb abnormalities. It shows complete penetrance and variable expressivity and has been linked to the TWIST gene on chromosome 7p21; more than 80 different intragenic mutations and, recently, large deletions have been detected in Saethre-Chotzen patients. The aim of this study was to genetically and phenotypically characterize patients with a clinical diagnosis of Saethre-Chotzen syndrome.

Postnatal onset of craniosynostosis in a case of Saethre-Chotzen syndrome.

Saethre-Chotzen syndrome is a craniosynostosis syndrome characterized by facial and limb abnormalities. It is caused by mutations in the TWIST gene on chromosome 7p21. To date, more than 80 different mutations in TWIST have been reported in the literature.