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Implications of Syndromic Diagnoses in Pierre Robin Sequence: A Case Control Study
Wendy Chen, MD, MS, Wei-Wei Lee, BS, Liliana Camison, MD, Jesse A Goldstein, MD
University of Pittsburgh Medical Center, Department of Plastic Surgery
2015-03-10
Presenter: Wendy Chen, MD, MS
Affidavit:
Wendy Chen, MD, MS
Director Name: Joseph E Losee, MD
Author Category: Resident Plastic Surgery
Presentation Category: Clinical
Abstract Category: Craniomaxillofacial
Syndromic diagnoses occur in 7-70% of PRS patients and are associated with greater respiratory compromise and worse treatment outcomes. However,few studies stratify syndromes that do or do not play an important role in pathology. Our aim is to characterize morbidity in syndromes associated with PRS.
Method:This is a retrospective case-control study of the Pittsburgh PRS registry(2002-2014). "Syndromic" was defined by formal genetics evaluation to have known syndrome/chromosome deletion. Controls were isolated PRS patients not referred to genetics. Variables included demographics, birth/neonatal, clinical, diagnostic, and surgical data. Outcomes include avoidance of tracheostomy, successful decannulation after initial tracheostomy, and severity of apnea per polysomnogram.
Results:Of 250 patients in the registry,81 had formal genetics workup,51 had known syndromes,16 were nonsyndromic. Of the 81 patients,39 avoided surgery;23 underwent tracheostomy,22 underwent MDO,10 required tracheostomy prior to MDO. One of 32 MDO patients failed distraction, requiring tracheostomy and supraglottoplasty. Of 51 syndromic patients,80% had syndromes associated with micrognathia and significant apnea at first PSG. Compared to controls, Stickler patients had increased obstruction and tracheostomy as index procedure(p=0.015). CHARGE(p=0.014), 22q11(p=0.039), and other chromosomal deletion(p=0.00) patients were more likely to have MDO and airway procedures. Syndromic patients had higher rates of Nissen fundoplication(p=0.017), but no difference(p>0.05) in gastrostomy rates or other variables (race, sex, birth history (prenatal,prematurity,APGAR,birth wt), median income). Worse outcome was correlated with syndromes with central nervous system,cardiac,and airway comorbidities.
Conclusion:Syndromic PRS patients are a diverse group with variable clinical outcome. Our cohort shows Stickler, CHARGE, and 22q11 patients to have worse airway status and may warrant special consideration.
