BACKGROUND: Saethre-Chotzen syndrome is a syndromic craniosynostosis defined by 
a genetic mutation affecting the TWIST1 gene on chromosome 7p21. It is typically 
associated with unicoronal or bicoronal synostosis, eyelid ptosis, dysmorphic 
external ears, and other variable facial and limb abnormalities. Surgical 
management of the craniosynostosis addresses the calvarial deformity and may 
relieve or reduce the risk of intracranial hypertension. The aim of this study 
was to assess surgical intervention, with particular consideration of the 
reoperation rate for intracranial hypertension, in Saethre-Chotzen syndrome 
patients.
METHODS: A retrospective case note analysis was performed on all patients with a 
confirmed TWIST1 gene abnormality who attended the Oxford Craniofacial Unit over 
a 15-year period. Each patient's mutation and clinical features were recorded. 
Surgical intervention and sequelae were examined in greater detail.
RESULTS: Thirty-four patients with genetically confirmed Saethre-Chotzen 
syndrome were identified. All had craniosynostosis (bicoronal, 76 percent; 
unicoronal, 18 percent; bicoronal and sagittal, 6 percent), and the majority had 
eyelid ptosis, low frontal hairline, and external ear anomalies. Thirty-one 
patients had received surgical intervention. Nine of 26 patients (35 percent) 
with at least 12 months of follow-up after primary intervention and eight of 19 
patients (42 percent) with at least 5 years of follow-up developed intracranial 
hypertension necessitating secondary calvarial surgery.
CONCLUSIONS: Despite standard surgical intervention, patients with 
Saethre-Chotzen syndrome have a high rate (35 to 42 percent) of recurrent 
intracranial hypertension necessitating further surgical expansion. All patients 
with either bicoronal synostosis or unicoronal synostosis with syndromic 
features should be screened for TWIST1 mutations, as this confers a greater risk 
than nonsyndromic synostosis of the same sutures. Regular follow-up throughout 
the childhood years is essential.