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Genetic Evaluation in Pierre Robin Sequence: Insights into Comorbidities and Clinical Management
Mary Wilding, BS (1); Viraj Govani, BA (1); Janina Kueper, MD (2); Tobi Somorin, BS (2); Nicolas Kass, BS (1); Ashley Rogers, MD (2); Jesse Goldstein, MD (2)
1. University of Pittsburgh School of Medicine
2. UPMC Department of Plastic Surgery
2025-01-09
Presenter: Mary Wilding
Affidavit:
This project is representative of original work from the entire team.
Director Name: Jesse Goldstein
Author Category: Medical Student
Presentation Category: Clinical
Abstract Category: Craniomaxillofacial
Introduction: Pierre Robin Sequence (PRS) is a congenital condition involving micrognathia, glossoptosis, and airway obstruction which has complex genetic and environmental influences. This study reviews our institution's experience with PRS and examines the relationship of genetic evaluations to clinical outcomes and patient management.
Methods: A retrospective analysis was conducted on patients with PRS at a tertiary children's hospital (2008-2023), collecting demographic, clinical, and genetic data. Analysis utilized Fisher's exact tests.
Results: 191 patients with PRS were evaluated by a Plastic Surgery Craniofacial team from 2008-2023. The average age at initial consultation was 7.82 days, and 49.21% were male. 166 patients received genetic evaluations, primarily microarrays (n=102), chromosome analysis (n=74), and Stickler syndrome testing (n=57). Likely pathogenic variants were identified in 60 patients, most frequently in COL2A1 (n=13), associated with Stickler syndrome, and CHD7 (n=3), associated with CHARGE syndrome.
Subgroup analysis revealed patients with COL2A1 variants were significantly more likely to have myopia (p<0.001) than those without the variant. Patients with CHD7 variants were more likely to require tracheostomy (p=0.004) and Nissen fundoplication (p=0.017) than those without. However, no significant differences were found in rates of cleft palate, obstructive sleep apnea, laryngomalacia, or the need for mandibular distraction osteogenesis or tongue-lip adhesion between patients with and without pathogenic variants.
Conclusion: Early genetic testing aids in appropriate molecular diagnosis, predicts potential comorbidities, and supports personalized care for some patients. Still, genetic manifestations in PRS are varied, remaining poorly understood while genetic testing is not a standardized component of patient care.
