Hip pathology in Majewski osteodysplastic primordial dwarfism type II

Area of Science:

• Orthopedics
• Genetics
• Pediatrics

Background:

• Majewski osteodysplastic primordial dwarfism type II (MOPDII) is a rare genetic disorder characterized by severe growth failure, microcephaly, skeletal dysplasia, and increased risks of cerebrovascular disease and insulin resistance.
• MOPDII is caused by mutations in the pericentrin (PCNT) gene and inherited in an autosomal-recessive manner.

Purpose of the Study:

• To determine the incidence of hip pathology in patients with molecularly confirmed MOPDII.
• To describe the functional outcomes of surgical treatment for hip pathology in MOPDII patients.

Main Methods:

• Retrospective review of 12 patients with molecularly confirmed MOPDII and available clinical/radiographic records.
• Data collected included demographics, age at presentation and surgery, weight-bearing status, and clinical examination findings.

Main Results:

• 31% of patients (4/12) presented with coxa vara (3 unilateral, 1 bilateral).
• Other hip pathologies included hip dysplasia, subluxation, developmental hip dislocations, and avascular necrosis.
• Surgical interventions included pinning for coxa vara and open reduction for dislocations, with varying outcomes.

Conclusions:

• Hip pathology is a common comorbidity in MOPDII, with coxa vara being the most frequent diagnosis.
• Routine clinical and radiographic hip surveillance is recommended for early detection and management.
• Slipped capital femoral epiphysis may be an early sign that can progress to severe coxa vara.