Absent pedicles in campomelic dysplasia.

Area of Science:

• Orthopedic Surgery
• Medical Genetics
• Radiology

Background:

• Campomelic dysplasia is a rare genetic disorder characterized by skeletal malformations.
• Spinal deformities, including kyphoscoliosis, are common in campomelic dysplasia.
• Absence of vertebral pedicles is a rare but significant finding in this condition.

Observation:

• A 10-year-old female with campomelic dysplasia presented with progressive kyphoscoliosis and neurological compromise.
• Imaging revealed absence of cervical and thoracic pedicles, along with thoracic stenosis.
• Floating posterior elements were noted in the lower cervical spine.

Findings:

• The patient underwent spinal decompression and fusion (C2-L4) using pedicle screws and sublaminar cables.
• Fixation was challenging due to absent pedicles and floating posterior elements.
• External immobilization with a cervicothoracic lumbosacral orthosis (CTLSO) was utilized.

Implications:

• This case underscores the surgical challenges posed by absent pedicles in campomelic dysplasia.
• Alternative fixation strategies and external bracing are crucial for successful spinal instrumentation.
• Careful preoperative planning is essential for managing spinal deformities in patients with campomelic dysplasia.