Sprengel Deformity in Biological Sisters

Area of Science:

• Orthopedics
• Pediatric Surgery
• Medical Genetics

Background:

• Sprengel deformity is a congenital condition characterized by a high-riding, dysplastic scapula, causing functional and cosmetic impairments.
• Previously, Sprengel deformity has not been reported in siblings, with its etiology remaining largely unknown.
• This case highlights the importance of considering genetic factors in rare congenital conditions.

Observation:

• Two sisters, aged 8 and 9, presented with limited shoulder range of motion and neck webbing.
• Physical examination revealed high-riding scapulas, neck webbing, and restricted shoulder abduction and flexion.
• Imaging demonstrated omovertebral connections and Klippel-Feil deformities in both patients.

Findings:

• Surgical intervention involving scapula repositioning and resection of omovertebral connections led to significant functional and cosmetic improvements.
• The 9-year-old sister had bilateral involvement, while the younger sister had unilateral Sprengel deformity.
• Post-operative follow-up showed near-complete restoration of shoulder function and improved cosmesis.

Implications:

• The occurrence of Sprengel deformity in siblings warrants further investigation into potential genetic predispositions.
• Early diagnosis and surgical management can significantly enhance outcomes for children with Sprengel deformity.
• This case contributes to the understanding of Sprengel deformity's presentation and management in pediatric patients.