Questions and Answers
What is the primary characteristic of osteochondrodysplasias?
Abnormalities in cartilage and bone growth
What is a risk factor for developing skeletal dysplasias?
Advanced paternal age
What is a common clinical feature of skeletal dysplasias?
Short stature or disproportionate short stature
What is a diagnostic tool used in the diagnosis of skeletal dysplasias?
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What is a possible complication of skeletal dysplasias?
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What is a form of management and treatment for skeletal dysplasias?
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Study Notes
Definition Skeletal dysplasias are a group of genetic disorders that affect the development and growth of the skeleton.
Types
Osteochondrodysplasias
- Characterized by abnormalities in cartilage and bone growth
- Examples: Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia
Dysostoses
- Characterized by abnormalities in the formation of individual bones
- Examples: Craniosynostosis, Ectrodactyly, Polydactyly
Causes and Risk Factors
- Genetic mutations (autosomal dominant, autosomal recessive, or X-linked)
- Advanced paternal age
- Family history of skeletal dysplasias
Clinical Features
- Short stature or disproportionate short stature
- Skeletal deformities (e.g., bowed legs, club foot)
- Joint problems (e.g., arthritis, limited mobility)
- Respiratory difficulties
- Neurological complications (e.g., hydrocephalus, spinal cord compression)
Diagnosis
- Clinical evaluation
- Radiographic examination (e.g., X-rays, CT scans)
- Molecular genetic testing (e.g., DNA analysis)
Management and Treatment
- Orthopedic interventions (e.g., surgery, bracing)
- Physical therapy and rehabilitation
- Pain management
- Genetic counseling
Complications
- Respiratory failure
- Neurological complications
- Increased risk of certain cancers (e.g., osteosarcoma)
- Reduced life expectancy
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