Developemental anomalies of the skeleton
More than 200 different developemental disorders have been defined.
Manifestation vary greatly.
Lethal and non-lethal skeletal dysplasias, lethal forms are
particularly important for the pathologist.
The diagnosis is made primarily on radiological features,
histological examination of cartilage and bone is recommended.
- Osteochondrodysplasias are
global involvements of cartilage and bone tissue resulting in
disproportionate growth or dwarfism
- defects of the growth of tubular bone and/or spine
- abnormalities of density of cortical diaphyseal structure
or metaphyseal modeling
- disorganized developement or cartilage and fibrous
component of skeleton
- Dysostoses: are
malformations of individual bones singly or in combination
result form localized problem in migration and condensation
of primitive mesenchymal cells.
Affect particular bone skeletal elements with the remainder being normal.
- craniofacial dysostoses — various craniosynostoses
- Axial skeleton malformations — segmentation defect disorders
- Limb malformations