S4A-01SESSION 4A: GENERALITIES IN CRANIOSYNOSTOSIS – PART I CLINICAL AND GENETIC CHARACTERIZATION OF CRANIOSYNOSTOSIS; A RETROSPECTIVE COHORT STUDY AT KING SAUD UNIVERSITY MEDICAL CITY

Abstract

Introduction: Craniosynostosis (CS) is defined as premature fusion of one or more of the cranial sutures and is classified to either simple or complex.CS can present as a part of a syndrome or as isolated finding.The aim of this study was to evaluate the clinical and genetic pattern of CS among Saudi population. Methods: A retrospective cohort study has been conducted from February 2015 till February 2019 at King Saud University Medical City among patients diagnosed with CS. Results: A total of 31 patients with CS has been identified in our center, of which 26 patients were operated, 4 patients refused surgery, and 1 was operated outside. 58 % (18 cases) of patients were male and 42% (13 cases) were female. Mean age at surgery among the 26 patients was 16 months. Simple CS was observed in 19 cases and complex CS in 12 cases. In our population, the most common simple skull suture fusion was unilateral coronal (plageocephaly) followed by metopic (trigonocephaly). Raised intracranial pressure was detected in 35.4% of the patients especially among syndromic cases and the most common grade of Papilledema were grade I and grade II preoperatively. The Most common procedure done was cranial vault reconstruction with fronto-orbital advancement, followed by posterior vault distraction. Post-operatively, Papilledema resolved in all but one patient who had improvement and is still being followed up. Furthermore, we found that 77.4% of patients had normal development and 22.6% presented with developmental delay. Developmental delay was observed commonly among complex suture fusion patients followed by metopic suture fusion. Genetics etiology was identified either by whole exome sequencing, single gene testing or microarray. Testing revealed; FGFR2 (5 cases), TWIST1 (4 cases), ALPL (2 cases), FREM1 (1 case), TGFBR2 (1 case), TCF12 (1 case), MAN2B1 (1 case), SETD2 (1 case), Interstitial deletion of the short arm of chromosome 7 in one case, and dual genetic diagnoses in one patient with ALDOB and ADAT3 gene mutations. Genetic testing for the remaining 9 cases is still not finalized. Parental consanguinity presented in 25.8% of the patients. Conclusion: Worldwide, Sagittal suture is the most commonly affected suture in simple craniosynostosis, but in our population coronal suture fusion was observed to be affected the most. This is the first study conducted about this topic in Saudi Arabia and further studies needed to investigate the characteristics of CS in our population.