[MIM 314 600]

(cervico-oculo-acoustic syndrome, syndrome COA )

Very rare. Associated to a microdeletion on Xq26.3. Mostly affects the girls.

Association of:

-        a Klippel-Feil type cervical spine malformation: webbed neck, fusion of cervical vertebrae (especially C2 - C3), low hairline

-        a bilateral paralysis of the oculomotor external ocular retraction (Duane syndrome)

-        a congenital deafness

Sometimes: preauricular appendages, cleft palate, subluxation of the lens, cervical rib, torticollis, cardiac or  vascular malformations (coarctation, carotid abnormalities), spina bifida, diastematomyelia, brain malformation, microcephaly, cerebellar hypoplasia), hydrocephalus

Anesthetic implications:

preoperative cardiac echography, difficult intubation; deafness; check the absence of lumbar, sacral or thoracic vertebral malformations before performing a neuraxial block.

References : 

-        Gupte G, Mahajan P, Shreenivas VK, Kher A, Bharucha BA. 
Wildervanck syndrome (cervico-oculo-acoustic syndrome). 
J Postgrad Med 1992;38:180

-        Schisler T, Huttunen H, Tang R, Vaghadia H. 
Ultrasound-assisted spinal anaesthesia in a patient with Wildervanck syndrome and congenital abnormalities of the lumbar spine. 
Brit J Anaesth 2012; 109: 290-1.

-        Hernando M,Urbasos M, Amarillo VE, Herrera MT, Garcia-Peces V, Plaza G. 
Wildervanck’s syndrome with severe inner ear dysplasia and agenesis of the right internal carotid artery.
Int J Pediatr Otorhinolaryngol 2014; 78: 704-6.

Updated: April 2014