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Purpose <p>Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare neurodevelopmental disorder marked by the absence of horizontal eye movement and gradual progressive scoliosis during childhood. Here, we report two biological siblings that presented with a shared diagnosis; however, the curves are in opposite directions and one presents with dextrocardia.</p> Methods <p>Two siblings presented with acute scoliosis and conjugate absence of horizontal gaze. The diagnosis was confirmed based on characteristic clinical presentation, congenital absence of horizontal gaze, and supportive radiographic imaging. Both patients were followed from early infancy through skeletal maturity with radiographs and clinical evaluations. Curve progression, response to conservative measures, and indications for surgical intervention were documented.</p> Results <p>Both patients developed progressive thoracic scoliosis despite early casting and bracing, with curves exceeding 70° by early adolescence ultimately requiring an anterior and posterior spinal fusion and instrumentation (PSFI). Postoperatively, both patients demonstrated stable spinal alignment and achieved satisfactory correction with long-term follow-up. Interestingly, evaluation of the radiographs demonstrates opposite convex thoracic curve patterns, each with an apex at T9, one with a left thoracic curve and an associated dextrocardia and the other with a right thoracic curve and normal left-sided heart position.</p> Conclusion <p>This report provides rare long-term data spanning more than a decade with a unique phenotypic presentation among siblings. It is notable for their opposing curve directions—one right-sided and one left-sided with the presence of conjugate dextrocardia in the left thoracic scoliosis. These findings may suggest an underlying influence of asymmetric cardiothoracic development or potential link of blood supply pattern on spinal curve direction. Recognition of this unique phenomenon might offer new insight into the etiology of scoliosis in HGPPS and warrants further investigation into the developmental factors contributing to curve morphology.</p>

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Horizontal gaze palsy with progressive scoliosis in siblings with opposing spinal curves and heart positions: is there a relationships and/or connection to etiology?

  • 期刊论文

  • 发表日期：

    2026年1月20日

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  • Andrew Spicer,
  • Anna Booth,
  • Daniel J. Sucato

摘要

Purpose

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare neurodevelopmental disorder marked by the absence of horizontal eye movement and gradual progressive scoliosis during childhood. Here, we report two biological siblings that presented with a shared diagnosis; however, the curves are in opposite directions and one presents with dextrocardia.

Methods

Two siblings presented with acute scoliosis and conjugate absence of horizontal gaze. The diagnosis was confirmed based on characteristic clinical presentation, congenital absence of horizontal gaze, and supportive radiographic imaging. Both patients were followed from early infancy through skeletal maturity with radiographs and clinical evaluations. Curve progression, response to conservative measures, and indications for surgical intervention were documented.

Results

Both patients developed progressive thoracic scoliosis despite early casting and bracing, with curves exceeding 70° by early adolescence ultimately requiring an anterior and posterior spinal fusion and instrumentation (PSFI). Postoperatively, both patients demonstrated stable spinal alignment and achieved satisfactory correction with long-term follow-up. Interestingly, evaluation of the radiographs demonstrates opposite convex thoracic curve patterns, each with an apex at T9, one with a left thoracic curve and an associated dextrocardia and the other with a right thoracic curve and normal left-sided heart position.

Conclusion

This report provides rare long-term data spanning more than a decade with a unique phenotypic presentation among siblings. It is notable for their opposing curve directions—one right-sided and one left-sided with the presence of conjugate dextrocardia in the left thoracic scoliosis. These findings may suggest an underlying influence of asymmetric cardiothoracic development or potential link of blood supply pattern on spinal curve direction. Recognition of this unique phenomenon might offer new insight into the etiology of scoliosis in HGPPS and warrants further investigation into the developmental factors contributing to curve morphology.