[MIM 277 610, 184 840]

(Pierre Robin-chondrodysplasia syndrome, oto-spondylo-megaepiphyseal autosomal dominant dysplasia, Strickler type 3 syndrome)

Very rare. Autosomal dominant transmission of a mutation of the COL11A2 gene (6p21.32).

It combines:

-        craniofacial dysmorphism: midface hypoplasia, small upturned nose, cleft palate, triad of Pierre Robin

-        deep bilateral deafness,

-        skeletal abnormalities: spondyloepiphyseal dysplasia, arthralgia, short limbs with broad elbows and knees, arthropathies.

Unlike classic Strickler syndrome, there are no eye abnormalities.

Anesthetic implications:

obstructive apneas. Difficult intubation; ease of use and effectiveness of the laryngeal mask. Usually, the obstruction of the upper airway and the difficulty of intubation improve with growth.

References : 

Updated: September 2020