Related Experiment Video
Updated: Dec 24, 2025
Minimally Invasive Treatment for Thoracolumbar Burst Fracture Using Sagittal Alignment Screws and A Trauma Reduction Device
Published on: November 8, 2024
Spinal Deformity in Sotos Syndrome: First Results of Growth-friendly Spine Surgery
Bram P Verhofste1,2, Michael P Glotzbecker3,4, David S Marks5
1Department of Orthopaedic Surgery, Boston Children's Hospital.
Insights
Growth-friendly instrumentation (GFI) in children with Sotos syndrome (SS) showed initial curve correction but may offer less correction than in other early-onset scoliosis (EOS) cases. GFI remains an effective treatment for spinal deformity in SS patients.
Area of Science:
- Pediatric Orthopedics
- Spinal Surgery
- Genetics
Background:
- Sotos syndrome (SS), or cerebral gigantism, is a genetic disorder characterized by overgrowth, macrocephaly, and developmental delays.
- Spinal deformities are a known complication of SS, but management strategies, particularly in young children, are not well-established.
- This study addresses the lack of literature on spinal deformity management in children under 10 with SS.
Purpose of the Study:
- To characterize the presentation of spinal deformities in children with Sotos syndrome.
- To evaluate the preliminary outcomes of growth-friendly instrumentation (GFI) for early-onset scoliosis (EOS) in children with SS.
Main Methods:
- Retrospective case-series analysis of 13 children (9 boys) with SS and EOS from multicenter databases (1997-2017).
- Minimum 2-year follow-up, with mean age at index surgery of 5.0 years.
- Evaluation of curve magnitude, spinal lengths, and sagittal parameters before and after GFI and definitive fusion, when applicable.
Main Results:
- The most common spinal deformities were thoracolumbar (38%) and double major (31%) curves, spanning a mean of 6.8 levels.
- Major curves improved by 36% post-surgery (71 to 46 degrees) but remained stable at latest GFI (52 degrees).
- Twenty-six complications occurred in 9 patients (69%), with an average of 2 complications per patient.
Conclusions:
- This is the first study to report on GFI outcomes in children with SS and EOS.
- While GFI provides initial curve correction, children with SS may experience less correction compared to general EOS populations.
- Growth-friendly surgery is a viable treatment option for managing spinal deformities in children with Sotos syndrome.
Background:
Sotos syndrome (SS), or cerebral gigantism, describes children with macrocephaly, craniofacial abnormalities, general overgrowth, ligamentous laxity, developmental delay, and neurological disabilities. Fewer than 500 cases have been reported since Sotos and colleagues described the condition in 1964 and no literature exists on the management of spinal deformity in children under 10 years old.The aims of this study were: (1) to characterize the presentation of spinal deformities in patients with SS; and (2) to provide preliminary results of growth-friendly instrumentation (GFI) in these children.
Methods:
Thirteen children (9 boys) with SS and minimum of 2-year follow-up were identified from 2 multicenter early-onset scoliosis (EOS) databases (1997-2017). Mean age at index surgery and follow-up duration were 5.0 years (range, 1.8 to 10 y) and 7.2 years (range, 2.1 to 14.9 y), respectively. Patients underwent GFI for a mean of 5.7 years (range, 2 to 10.2 y), with an average of 9 lengthenings (range, 2 to 18). Definitive spinal fusion was performed in 4 patients (31%). Major curve magnitude, T1-T12 and T1-S1 lengths, thoracic kyphosis, and lumbar lordosis were evaluated preindex, postindex, latest GFI, and postfusion, when possible.
Results:
Five thoracolumbar (38%), 4 double major (31%), 2 main thoracic (15%), and 2 double thoracic curves (15%) were seen that spanned a mean of 6.8 levels (5 to 9). Major curves improved 36% (range, 5% to 71%), from a mean of 71 degrees (range, 48 to 90 degrees) to 46 degrees (range, 20 to 73 degrees) postindex surgery (P<0.001). Major curves remained stable at a mean of 52 degrees (range, 20 to 87 degrees) at latest GFI (P=0.36). True T1-T12 and T1-S1 growth velocities during GFI were 0.5 mm/mo (range, 0.4 to 0.8 mm/mo) and 0.8 mm/mo (range, 0.1 to 2.1 mm/mo), respectively. Twenty-six complications occurred in 9 patients (69%) averaging 2 complications per patient (range, 0 to 7).
Conclusions:
This is the first study to evaluate the outcomes of GFI in children with SS and EOS. Compared with published data for outcomes of GFI in EOS, children with SS may have less major curve correction. Growth-friendly surgery remains an effective treatment method for EOS in patients with SS.
Levels Of Evidence:
Level IV-retrospective case-series.
