S14-03 SESSION 14: FACIOCRANIOSYNOSTOSIS – PART III SAETHRE-CHOTZEN SYNDROME: LONG-TERM OUTCOME OF A SYNDROME-SPECIFIC TREATMENT PROTOCOL

Abstract

Introduction: To assess the long-term outcomes of our standard treatment protocol for Saethre-Chotzen syndrome (SCS), which includes one-stage fronto-orbital advancement (FOA). Methods: We included all patients born with SCS between Jan 1992- March 2017, the diagnosis was genetically confirmed. Evaluated parameters included occipital frontal head circumference (OFC), fundoscopy, neuro-imaging (i.e. ventricular size, tonsillar position, and the presence of collaterals/a deviant transverse sinus), polysomnography and ophthalmologic outcomes. Factors influencing proportional differences between patients with or without papilledema and with one versus more surgical interventions were evaluated with Fishers exact test. Results: We included 33 patients. The median age at first surgery was 9.6 months for patients primarily referred to our center (N=31). Seven patients had papilledema pre-operatively, which recurred in 2. Two patients had papilledema solely after first surgery. Second cranial vault expansion was indicated in 6 patients treated according to our treatment protocol (19%). One patient had ventriculomegaly, none developed hydrocephalus. Ten patients had venous collaterals, the transverse sinus was aberrant unilaterally in 12 (hypoplastic N=10, absent N=2). Four patients had tonsillar herniation (TH), one had a CM-I malformation. Four patients had OSA (2 mild, 1 moderate, 1 severe). An aberrant transverse sinus was associated with the occurrence of papilledema (P =0.03). Conclusion: A one-stage FOA is sufficient treatment for 81% of the patients with SCS. The follow-up in these patients should focus on OFC deflection and venous anomalies.