Preoperative halo traction for rigid spinal deformity in contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B: a case report and literature review.

PURPOSE

This study reports a surgical case for spinal deformity in a patient with contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B (CPSFSIB), a rare autosomal recessive musculoskeletal disorder caused by biallelic mutations in MYH3.

METHODS

A female patient with congenital joint contractures was admitted due to severe thoracic scoliosis and lordosis. The patient was diagnosed with CPSFSIB following whole exome sequencing (WES). After a period of halo-gravity traction for 1 week and halo-pelvic traction for 7 weeks, the patient underwent posterior Smith-Peterson osteotomy (SPO).

RESULTS

Postoperative radiographs demonstrated a significant correction of scoliosis from 100° to 54°, and thoracic kyphosis was restored from - 35° to 11°. At the 2-year follow-up, the patient exhibited a satisfactory deformity correction and regained the ability to perform daily living activities.

CONCLUSION

To date, only 23 cases of CPSFSIB have been reported in the literature, with no previous documentation of surgical interventions for severe spinal deformity. Our study provided a comprehensive clinical report on this rare musculoskeletal disorder and introduced an effective surgical strategy, contributing valuable insights to the management of CPSFSIB. Additionally, we presented the new detection of MYH3 allele mutations, including the first report of the c.-9 + 1G > A variant in the East Asian population and the c.748 C > T variant in the global CPSFSIB patient cohort.