The Incidence of Velopharyngeal Insufficiency in Stickler Syndrome

Abstract

Objective

Stickler Syndrome (SS) is an inherited collagenopathy characterized by heterogenous orofacial, ocular, auditory, and skeletal abnormalities. The orofacial manifestations are variable and some patients present with cleft palate and velopharyngeal insufficiency (VPI). The incidence of VPI in SS is poorly studied and no studies have compared the incidence of VPI between Type I (COL2A1) and Type II (COL11A1) SS. The objective of this study is to compare the incidence of VPI between SS subtypes and discuss the surgical techniques used to treat them.

Design

Single-institution, retrospective chart review.

Setting

Tertiary pediatric hospital.

Patients/participants

Forty-three children were diagnosed with SS between January 2003 and December 2018. Genetic testing results, genetics notes, craniofacial clinic notes, and operative reports were reviewed. Patients without genetic testing or craniofacial/otolaryngologic evaluation were excluded. Thirty-one patients met criteria and were included.

Main Outcome Measure

Primary outcome was VPI incidence.

Results

There were 18 patients with Type I SS and 13 with Type II SS. Five (16%) patients had VPI, 2 (11%) with Type I SS compared to 3 (23%) with Type II SS (P > .05). All patients with VPI underwent surgery with either sphincter pharyngoplasty (3) or pharyngeal flap (2). Two patients with Type II SS underwent revision sphincter pharyngoplasty, with one conversion to pharyngeal flap.

Conclusion

VPI is common for patients with SS. In this study, there was no significant difference in the incidence of VPI between SS subtypes. Future studies are needed to confirm these findings, which could be important for patient counseling and treatment planning.