Background: Patients with Saethre-Chotzen syndrome have a heterogeneous phenotype. The purpose of this study was to use the genotypic diagnosis of the authors' series of patients with TWIST1-confirmed Saethre-Chotzen syndrome to describe their natural history and long-term surgical outcomes.
Methods: A retrospective chart review was performed on patients treated at The Children's Hospital of Philadelphia with TWIST1-confirmed Saethre-Chotzen syndrome (n = 22) over 23 years (1985 to 2008). Their phenotype, need for primary cranial vault remodeling surgery, and subsequent need for reoperation were recorded. Genetic records were reviewed to identify each patient's TWIST1 mutation.
Results: There were nine female patients and 13 male patients. Ten had bicoronal (45 percent), six had unicoronal (27 percent), and four had multisuture (18 percent) craniosynostosis. One had metopic and another had sagittal craniosynostosis. Average follow-up was 7.6 years (range, birth to 19.6 years). Seventeen (77 percent) underwent initial cranial vault remodeling and 10 (59 percent) required repeat intracranial vault remodeling (Whitaker class IV). One patient required major reoperation with bone grafting (Whitaker class III). Three patients needed minor revision procedures (Whitaker class II). Three patients needed no further intervention (Whitaker class I). The locations of the TWIST1 gene mutations in this study did not correlate to a specific surgical outcome.
Conclusions: TWIST1-confirmed Saethre-Chotzen syndrome is heterogeneous and manifests as either mild or severe craniofacial deformities. Our patients with TWIST1-confirmed Saethre-Chotzen syndrome had a reoperation rate of 65 percent for Whitaker class III and IV surgical outcome, and 59 percent required a secondary intracranial procedure for recurrent supraorbital retrusion.