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Program

Orthopedic Surgery

Training Level

Resident PGY 1

Institution

Henry Ford Hospital

Abstract

Case: Marshall-Smith syndrome is a rare genetic condition due to mutations in the NFIX gene resulting in a multitude of congenital abnormalities, including atlantoaxial instability and ligamentous laxity. This case report describes a patient with Marshall-Smith syndrome who developed atlantoaxial rotatory subluxation and subsequent rapidly progressive scoliosis after occiput-C2 fusion. She was treated with 4 weeks of halo traction, followed by an occiput to T3 posterior spinal fusion, segmental fixation, and magnetic growth rods from T3-L4. The thoracic curve was reduced from 125 to 34 degrees.Conclusion: The presence of atlantoaxial rotatory subluxation in the setting of generalized ligamentous laxity likely contributed to the rapid progression of scoliosis in this patient and should be recognized.

Publication Date

5-2019

Rapidly progressive scoliosis in a patient with Marshall-Smith Syndrome

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