Andrea Fábregas, BS
Norman Ramírez, MD
Amer Samdani, MD

Shriners Children’s, Philadelphia, Pennsylvania
School of Medicine, Universidad Central del Caribe, Bayamón, Puerto Rico
Pediatric Orthopedic Surgery Department, Mayagüez Medical Center, Mayagüez, Puerto Rico

Introduction

Escobar Syndrome (ES) is a rare genetic disorder characterized by joint contractures, pterygia, craniofacial anomalies, and scoliosis. While scoliosis is the most common skeletal anomaly in ES, with prevalence ranging from 32% to 93%, limited literature exists regarding its management. This study aims to report clinical presentations, radiographic parameters, spine characteristics, and surgical outcomes in ES patients with scoliosis.

Methods

A single-center retrospective study analyzed electronic medical records of 21 ES patients with scoliosis treated between 2000 and 2021. Data collected included demographic information, clinical features, and radiographic parameters (curve angles and intraspinal anomalies), treatment outcomes, and surgical variables (procedure time, blood loss, and complications).

Results

Of 21 patients (66% female), 61.9% were ambulatory. Craniofacial abnormalities (76%) and tethered cords (47%) were common comorbidities. Of the sixteen surgically treated patients, mean Cobb angles improved significantly from 72° to 53° (p=0.0048) at follow-up. The five untreated patients had an average Cobb of 54°. Surgical interventions included growing rods, MAGEC rods, VEPTR, and posterior spinal fusion (PSF). VEPTR rods demonstrated the highest complication rate, with seven implant-related failures requiring frequent replacement surgeries. Nine patients (52.9%) experienced anesthesia-related complications.

Conclusion

Scoliosis in ES presents unique challenges due to associated anomalies and high complication rates. While surgical interventions effectively improve spinal alignment, VEPTR rods showed the highest complication rate and required further revisions, making them a less favorable option. Optimal outcomes in this complex patient population require a multidisciplinary approach for treatment selection and management.

Keywords

Escobar Syndrome, Scoliosis management, VEPTR rods, Spine surgery