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

Authors

Keywords:

anaesthesia, spondylo-ocular syndrome, genetic disorder

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.

Author Biographies

J Van Wyk, Helen Joseph Hospital

Department of Anaesthesiology, Helen Joseph Hospital, South Africa

K Davidson, Rahima Moosa Mother and Child Hospital

Department of Anaesthesiology, Rahima Moosa Mother and Child Hospital, South Africa

B Gardner, Helen Joseph Hospital

Department of Anaesthesiology, Helen Joseph Hospital, South Africa

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Published

2024-06-25

Issue

Section

Case Studies