Torticollis in Connection with Spine Phenotype

Area of Science:

• Orthopaedics
• Genetics
• Radiology

Background:

• Torticollis is a common presentation in orthopaedic settings, with various proposed etiologies.
• Identifying the precise cause is critical, as misdiagnosis can lead to severe complications.

Purpose of the Study:

• To investigate the correlation between cervical and spine malformation complexes and torticollis.
• To analyze the connection between these malformations and specific syndromic entities using radiographic and tomographic analysis.

Main Methods:

• Retrospective analysis of six patients (2 boys, 4 girls, aged 14-18) with torticollis and associated spinal abnormalities.
• Utilized conventional radiography and 3D reconstruction CT scanning for detailed phenotypic characterization.
• Genetic analysis (gene sequencing and karyotyping) was performed for etiological diagnosis.

Main Results:

• Three-dimensional CT scanning revealed underlying spine malformations as the cause of torticollis in all patients.
• Diagnoses included spondylometaphyseal dysplasia (NKX3-2 gene mutation), pseudoachondroplasia (COMP gene mutation), and MURCS association.
• Genetic analysis confirmed specific syndromes and identified carrier status in family members.

Conclusions:

• Torticollis in pediatric patients frequently stems from complex cranio-cervical and spinal malformations.
• Comprehensive clinical and radiological evaluation, including genetic analysis, is essential for accurate diagnosis and management.
• Misinterpreting torticollis as purely muscular can lead to detrimental outcomes; advanced imaging and genetic insights are vital.