Spondylo-ocular syndrome: anaesthetic concerns and considerations for a novel genetic syndrome – a case report

Abstract

Spondylo-ocular syndrome is a novel Mendelian genetic disorder characterised by ocular manifestations and bone fragility. To date, only 24 cases have been reported worldwide.¹ The syndrome varies in presentation and can be associated with cardiac defects, facial deformities, intellectual disability, hearing impairment, genitourinary manifestations as well as osteoporosis with platyspondyly.¹ The anaesthetic considerations for children affected with spondylo-ocular syndrome have not yet been described. We report on the clinical manifestations and anaesthetic concerns surrounding the syndrome.