Learning objectives
Skeletal dysplasias are rare developmental and growth disorders of bone and cartilage that cause abnormalities in bony structures of the body.
It is important to be able to recognize the main skeletal alterations and their imaging characteristics for an adequate approach that allows early diagnosis and treatment.
The diagnosis of these pathologies are based on molecular and biochemical tests,
however,
the imaging findings are still an important part for the diagnostic approach.
Background
SKELETAL DYSPLASIAS:
Growth and development disorders of bone and the cartilage.
More than 450 entities have been described,
according to radiological,
biochemical and molecular findings.
Alterations of the axial and/or appendicular skeleton.
1 in every 5000 live births.
The majority presents growth delay before 3 years of age.
It is necessary to know the appropriate terminology to start the imaging assessment in patients with suspected skeletal dysplasias,
so the following concepts will be defined:
Osteochondrodysplasias:
⦁ Growth abnormalities of bone or cartilage texture.
⦁ Genetic...
Findings and procedure details
These are cases of our institutions and some of the imaging characteristics in each pathology.
Group I: Epiphyseal dysplasias
Group II: Metaphyseal dysplasias
Group III: Dysplasias with altered bone density
Group IV: Miscellaneousentities
Conclusion
Skeletal dysplasias are infrequent malformations,
so they remain a diagnostic challenge.
An adequate initial approach in conjunction with appropriate radiological studies offer guidance to a more specific diagnosis and timely treatment.
Personal information
Andres Ricardo Vasquez Gomez.
RadiologyResident (Imaging Department,
Fundacion Santa Fe de Bogotá.
Radiology Program of Universidad El Bosque.
Bogotá,
Colombia).
Natalia Rueda Ruiz.
RadiologyResident (Imaging Department,
Fundacion Santa Fe de Bogotá.
Radiology Program of Universidad El Bosque.
Bogotá,
Colombia).
David Fernando Torres Cortes.
RadiologyResident (Imaging Department,
Fundacion Santa Fe de Bogotá.
Radiology Program of Universidad El Bosque.
Bogotá,
Colombia).
Oscar Mauricio Rivero Rapalino.
Radiologist Musculoskeletal Imaging (Imaging Department,
Fundacion Santa Fe de Bogotá,
Bogotá,
Colombia).
Mónica Royero Arias.
Pediatric Radiologist (Universidad Nacional de Colombia,
Bogotá,...
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