Hip pathology in Majewski osteodysplastic primordial dwarfism type II
Related Experiment Video
Updated: May 1, 2026
Culture of Murine Embryonic Metatarsals: A Physiological Model of Endochondral Ossification
Published on: December 3, 2016
Ali F Karatas1, Michael B Bober, Kenneth Rogers
1Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE.
Introduction:
Majewski osteodysplastic primordial dwarfism type II (MOPDII) is characterized by severe prenatal and postnatal growth failure with microcephaly, characteristic skeletal dysplasia, an increased risk for cerebrovascular disease, and insulin resistance. MOPDII is caused by mutations in the pericentrin (PCNT) gene and is inherited in an autosomal-recessive manner. This study aimed to determine the incidence of hip pathology in patients with molecularly confirmed MOPDII and to describe the functional outcomes of surgical treatment.
Methods:
Thirty-three enrolled patients had a clinical diagnosis of MOPDII. Biallelic PCNT mutations or absent pericentrin protein was confirmed in 25 of these patients. Twelve patients (7 female) had appropriate clinical and radiographic records at this institution and were included in this study. The data collected included age at presentation, age at surgery, sex, body weight and height, weight-bearing status at diagnosis, and the clinical examination.
Results:
Four patients (31%) had coxa vara: 3 unilateral and 1 bilateral. Three unilateral patients had in situ pinning at a mean age 4 years. The patient with bilateral coxa vara had valgus osteotomy at the age of 5 years. Two children had bilateral hip dysplasia and subluxation with no surgery. One patient had bilateral developmental hip dislocations. The patient was treated by open reduction-spica cast and 2 years after surgery, coxa valga was noted. Another patient was diagnosed at an age of 12 years with bilateral avascular necrosis of the hips. Four patients did not have hip pathology.
Conclusions:
Hip pathology is common among children with MOPDII; coxa vara is the most frequent diagnosis. Routine clinical and radiographic hip evaluation is important. The capital femoral epiphysis appears to slip down along the shaft, giving the appearance of a proximal femoral epiphysiolysis. A hip diagnosed with slipped capital femoral epiphysis in early life may progress to severe coxa vara.
Level Of Evidence:
Level IV.
Insights
Hip pathology, particularly coxa vara, is frequent in Majewski osteodysplastic primordial dwarfism type II (MOPDII). Early clinical and radiographic hip evaluation is crucial for managing this condition.
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.
Related Concept Videos
01:09Changes in the Appendicular Skeleton with Age
Initially, the limb buds consist of a core of mesenchyme covered by a layer of ectoderm. The ectoderm at the end of the limb bud thickens to form a narrow crest called the apical ectodermal ridge. This ridge stimulates the underlying...
01:24Bone Formation by Endochondral Ossification
01:29Bone Formation by Intramembranous Ossification
The process begins when mesenchymal cells in the embryonic skeleton gather together and differentiate into osteogenic cells, which then develop into ...
01:27Growth of Cartilage and Bone Tissue
01:16Bones of the Lower Limb: Femur and Patella
01:29Bone Disorders
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...