Stickler Syndrome: Airway Complications in a Case Series of 502 Patients

Abstract

Background: Patients with Stickler syndrome often require emergency surgery and are often anesthetized in nonspecialist units, typically for retinal detachment repair. Despite the occurrence of cleft palate and Pierre-Robin sequence, there is little published literature on airway complications. Our aim was to describe anesthetic practice and complications in a nonselected series of Stickler syndrome cases. To our knowledge, this is the largest such series in the published literature. METHODS: We retrospectively identified patients with genetically confirmed Stickler syndrome who had undergone general anesthesia in a major teaching hospital, seeking to identify factors that predicted patients who would require more than 1 attempt to correctly site an endotracheal tube (ETT) or supraglottic airway device (SAD). Patient demographics, associated factors, and anesthetic complications were collected. Descriptive statistical analysis and logistic regression modeling were performed. RESULTS: Five hundred and two anesthetic events were analyzed. Three hundred ninety-five (92.7%) type 1 Stickler and 63 (96.9%) type 2 Stickler patients could be managed with a single attempt of passing an ETT or SAD. Advanced airway techniques were required on 4 occasions, and we report no major complications. On logistic regression, modeling receding mandible ( P = .0004) and history of cleft palate ( P = .0004) were significantly associated with the need for more than 1 attempt at airway manipulation. CONCLUSIONS: The majority of Stickler patients can be anesthetized safely with standard management. If patients have a receding mandible or history of cleft, an experienced anesthetist familiar with Stickler syndrome should manage the patient. We recommend that patients identified to have a difficult airway wear an alert bracelet.

Laser Prophylaxis in Stickler Syndrome

“…Avoidance of general anesthesia may be important in patients with Stickler syndrome with difficulties in ventilation and intubation owing to craniofacial abnormalities. 12 There were no documented complications of laser prophylaxis in our cohort. The most commonly reported side effects from the Cambridge cryotherapy protocol were lid/conjunctival inflammation in around 45% of patients, which on average resolved within 4 weeks, nausea and/or vomiting in 12%, and accommodation insufficiency in 10%.…”

Ophthalmic manifestations of Czech dysplasia

“…Notably, individual III‐2 from family 1 was born with a cleft palate, which could have led to dysfunction of her Eustachian tube, resulting in negative middle ear pressure in her right ear. Interestingly, cleft palate is a feature that has not been reported in other Czech dysplasia patients before but is frequently documented in other type II collagenopathies, most typically Type 1 Stickler syndrome (Zimmermann et al, 2021). Individuals from families 2–4 also exhibit other congenital facial abnormalities such as high arched palate.…”

Therapeutic and diagnostic advances in Stickler syndrome

“…In a series of 502 cases of Stickler syndrome, a history of cleft repair was present in almost 40% of type 1 Stickler syndrome patients and 25% of type 2 Stickler syndrome patients, Pierre–Robin sequence being present in 13% and 1.5% of type 1 and type 2 patients, respectively. 26 Examination of the palate by inspection and palpation is important as some patients will be unaware of their high palate or sub-clinical soft cleft ( Figure 7 ).…”