A family with primary protrusio acetabuli

Area of Science:

• Orthopedics
• Genetics
• Radiology

Background:

• Protrusio acetabuli is a hip condition characterized by inward protrusion of the acetabulum.
• Understanding its genetic basis and familial aggregation is crucial for early diagnosis and management.

Observation:

• A child rapidly developed symptoms and flexion contractures with protrusio acetabuli between ages 8 and 11.
• Family members, including the mother and siblings, exhibited hip movement limitations and radiological signs of protrusio acetabuli.
• Radiological criteria for protrusio acetabuli were present in the mother and 4 out of 8 siblings, with only one reporting pain.

Findings:

• The proband underwent bilateral total hip replacement at age 16.
• Histological examination revealed fibrocartilaginous replacement and osteophyte formation, consistent with advanced joint changes.

Implications:

• The familial occurrence suggests a possible genetic predisposition to protrusio acetabuli.
• Early screening and genetic counseling may be beneficial for affected families.
• Further research into the specific genetic factors and disease mechanisms is warranted.