Stickler syndrome

(Marshall-Stickler syndrome, oculo-skeletal dysplasia)

Incidence: 1/7,000 to 1/9,000 births. Genetic heterogeneity: 5 genes have been identified to date. Disease of the connective tissue found in 11 to 18 % of children with Pierre Robin sequence (see this term).

There are 3 forms of autosomal dominant transmission:

- type 1 (50 %): mutation in the COL2A1 gene; sometimes de novo mutations; an allelic form produces congenital spondyloepiphyseal dysplasia (see this term) where Stickler syndrome abnormalities are associated with a short stature, epiphyseal dysplasia, platyspondylia and instability of the atloaxoid joint

- type 2: mutations in the COL11A1 gene

- type 3: COL11A2 gene mutation ; in this form, there are no ocular abnormalities.

and a very rare autosomal recessive transmission form (COL9A1, COL9A2 or COL9A3 genes).

Association of the following anomalies:

- eye: severe congenital myopia, anomalies of the vitreous body with a risk of retinal detachment, cataract

- orofacial: bifid uvula, cleft palate (40 %), microretrognathism, midface hypoplasia (flat face), anteverted nostrils; Pierre Robin sequence (25 %)

- joint: hypermobility of joints, early onset osteoarthritis, spondyloepiphyseal dysplasia (epiphyseal dysplasia and platyspondyly), short stature

- auditory: perception or transmission deafness

The two main problems to solve in the neonatal period are difficulty breathing and feeding which sometimes require a gastrostomy. Airway obstruction management is the same as in any Pierre Robin sequence and includes, depending on the severity of the obstruction: prone positioning, a nasopharyngeal airway, suturing the tongue tip to the inferior lip (glossopexy) or a tracheostomy. Some teams perform a gradual (for 6-8 weeks) mandibular distraction in the neonatal period provided that obstruction of the airway is limited to the oropharynx (no associated laryngeal or tracheal problem).

Anesthetic implications:

obstructive apnea. Difficult intubation, mostly in the neonatal period and in early infancy: the laryngeal mask airway is easy to insert and can be used as a guide for fiberoptic intubation. Airway obstruction during induction and awakening. In principle upper airway obstruction and difficult intubation improve with growth but retrognathism and history of cleft palate remain predictive factors of a difficult intubation. Eye protection

References:

- Evans KN, Sie KC, Hopper RA, Glass RP, Hing AV, Cunningham ML.
Robin sequence: from diagnosis to development of an effective management plan.
Pediatrics 2011; 127: 936-48.

- Cladis F, Kumar A, Grunwaldt L, Ottenson T, Ford M, Losee JE.
Pierre Robin sequence: a perioperative review.
Anesth Analg 2014 ; 119 : 400-12.

- Geneviève D, Captier G, Blanchet C.
Syndromes avec fentes labiopalatines.
In Syndromes dysmorphiques coordonné par Lacombe D et Philip N, Collection Progrès en Pédiatrie, Doin 2013, p 261-82.

- Zimmermann J, Stubbs DJ, Richards AJ, Alexander P, McInich AM, Matta B, Snead MP.
Stickler syndrome : airway complications in a case series of 502 patients.
Anesth Analg 2021;132 :202-9.

Updated: December 2020