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Development of the hip in diastrophic dysplasia
P Vaara1, J Peltonen, M Poussa
1Department of Paediatric Orthopaedics, Hospital for Children and Adolescents, University of Helsinki, Finland.
Insights
Diastrophic dysplasia causes progressive hip joint deformities, including flexion contractures and delayed bone development. These hip changes lead to early-onset osteoarthritis, impacting joint health significantly.
Area of Science:
- Orthopedics
- Medical Genetics
- Radiology
Background:
- Diastrophic dysplasia is a rare skeletal disorder affecting bone and cartilage development.
- Early identification of hip joint involvement is crucial for managing potential complications.
Purpose of the Study:
- To clinically and radiologically characterize hip joint changes in patients with diastrophic dysplasia.
- To identify early indicators of hip degeneration in diastrophic dysplasia.
Main Methods:
- Clinical and radiological examination of 50 patients with diastrophic dysplasia.
- Dissection of two aborted fetuses.
- Magnetic Resonance Imaging (MRI) of newborn infants' hips.
Main Results:
- Fetal hips and newborn MRIs showed initial congruity, but 93% developed progressive hip flexion contractures.
- Delayed appearance of proximal femoral ossific nuclei was observed, particularly in females.
- Radiological measurements deviated from norms, correlating with restricted movement and hip deformities like flattened femoral heads.
Conclusions:
- Diastrophic dysplasia leads to progressive hip joint deformities and early osteoarthritis.
- Specific clinical and radiological findings can predict early joint degeneration in diastrophic dysplasia.
Abstract:
We examined 50 patients with diastrophic dysplasia both clinically and radiologically. Two legally aborted fetuses were dissected. The mean age of the patients was 16.2 years (newborn to 38) and the mean follow-up was 11.4 years (3 months to 34 years). The fetal hips and MRI of newborn infants showed congruity and no significant joint deformity. Flexion contracture of the hip became evident later in 93% and was progressive. The radiological appearance of the proximal femoral ossific nuclei was delayed and in 17% of males and 28% of females the ossific nuclei had not appeared by the age of 12 years. Radiological measurements differed considerably from reference values and were related to the rapid and progressive restriction of rotational movement and the increase in flexion contracture. The typical findings were flattening and inferomedial bulking of the femoral head and a double-hump deformation. The changes in the hip led to secondary osteoarthritis before early middle age. We describe the clinical and radiological measurements which define the early degeneration of the joint.