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.