Bardet–Biedl syndrome: expect the unexpected, suspect the unsuspected

Abstract

This is the first reported description of Bardet–Biedl syndrome (BBS) with the combination of a malacic bifid epiglottis and anterior laryngeal web. Anaesthesia for BBS has numerous concerns and these are reviewed, focusing on features that manifest not only in BBS but across a spectrum of syndromes that impact airway management. Congenital laryngeal anomalies (CLA) are rare and usually present preoperatively with upper airway obstruction and stridor. In asymptomatic infants, CLA may cause unexpected airway problems under anaesthesia which can be mistaken for more common occurrences, such as laryngospasm. Preoperative dysphonia may be the only clue to suspecting the presence of a CLA. The combination of obesity, polysyndactyly/brachydactyly and even subtle craniofacial abnormalities should always alert the anaesthetist to the possibility of a CLA and difficult airway.

Keywords: anterior laryngeal web, Bardet–Biedl syndrome, bifid epiglottis, laryngeal anomalies, paediatric anaesthesia, paediatric obesity, stridor, craniofacial syndromes, upper airway obstruction