67 a case series of a higher incidence of down syndrome in patients with metopic craniosynostosis

Abstract

Introduction The incidence of craniosynostosis ranges from 3.1 to 6.4 in 10 000 births. Specifically, metopic craniosynostosis affects 0.14 to 1.4 in 10 000 births. The current prevalence of Down syndrome is 1/700 births. While there is no conclusive association established between Down syndrome and metopic craniosynostosis, we have observed a higher incidence of patients with both conditions. Methods A retrospective analysis of all patients with metopic craniosynostosis from 2006–2016 was conducted, and those with trisomy 21 were reviewed. Information regarding birth, development, pertinent health conditions, skull imaging, and corrective procedures were collected. Results The charts of patients with metopic craniosynostosis reviewed spanned 10 years (2006–2010) and 3 patients with trisomy 21 were found. On average, our department performs 8 metopic craniosynostosis corrections per year. This produces an approximate incidence of 3/80 (3.75%). These patients exhibited a range of other medical conditions ranging from heart to nutritional problems. Figure 1 shows a CT head scan of the fused metopic suture of a patient. Patients underwent skull remodelling procedures. Conclusion Given our high incidence of Down syndrome within our metopic craniosynostosis patient population, we suspect there may be a mechanistic or genetic connexion between them. Specifically, the abnormal structural development of the brain due to trisomy 21 may influence the premature closure of the metopic suture.