[MIM 113 650]

Acronym of Branchio-Oto-Renal syndrome.

(Melnick-Fraser syndrome, branchio-otic syndrome)

Incidence: approximately 1/40,000. Autosomal dominant transmission with variable expressivity of mutations of the EYA1 gene on chromosome 8 in 40 % of cases and of a mutation of the SIX1 or SIX5 genes in other cases.

Association of:

-         branchial anomalies: branchial fistula, pre-auricular appendices

-          perception or transmission deafness: this syndrome is responsible for 2 % of the congenital deafnesses; anomalies of the auricle of the ear

-         and renal anomalies ranging from hypoplasia to complete bilateral agenesis (lethal).

Narrow face and palate. Sometimes: cleft palate, unilateral congenital facial paralysis (or hypoglossal nerve palsy).

Anesthetic implications: 

monitor renal function, risk of difficult intubation. Cases of significant bradycardia with sevoflurane (induction, maintenance or emergence) have been reported without any associated cardiac abnormality. Consider an anticholinergic premedication.

References:

•        Taylor MHG, Wilton NCT. 
  Bradycardia with sevoflurane in siblings with branchio-oto-renal syndrome. 
  Pediatr Anesth 2007; 17:80-3. 
•        Tsukamoto M, Yokoyama T.
  Anesthetic management of a patient with branchio-oto-renal syndrome.
  J Dent Anesth Pain Med 2017; 17: 215-7.

Updated: April 2019