Lec. 1: Diseases and disorders of bone Flashcards
Diseases and Disorders of bone can be divided into 4 different areas
- Responses to stress
- Congenital
- Disorders of epiphyses & epiphyseal growth
- Metabolic
(3) Bone disorders with the responses to Stress/Injuries
Altered deposition of bone
Altered resorption of bone
Mechanical failure (fracture)
Altered deposition of bone, can be and give an example
- Localized or generalized, increased or decreased
- Osteoporosis: decreased bone deposition
Altered resorption of bone can be and give and example
- Localized or generalized, increased or decreased
- Osteopetrosis: decreased bone resorption
Some examples of localized congenital abnormalities
- Clubfoot
- Coxa Vara
- Congenital dislocation of hip
- Congenital amputations
- Nursemaid’s elbow
- Spina Bifida
- Hypoplasia of tibia, fibula, femur, radius, clavicle
- Torticollis
- Scoliosis
- Sprengle deformity (micro scapula)
Some examples of Generalized congenital abnormalities
- Osteogenesis Imperfecta
- Achondroplasia
- Marfan Syndrome (Hyperchondroplasia)
- Osteopetrosis
Osteogenesis Imperfecta
Congenital osteoporosis → with resultant pathological fractures
Mutations of Type I collagen genes cortical thinning (Main type in bone and ligaments)
Four types classified
Osteogenesis Imperfecta type 1
- most mild
- most common
- fractures appear after child starts walking
- blue sclerae
- head appears large compared to body
- limbs deformed
- deafness my occur
- teeth may be affected
- bones seem to strengthen after puberty
Osteogenesis Imperfecta type 2
- most severe
- typically fatal in pre-natal period
Osteogenesis Imperfecta type 3
- Severe
- multiple fractures at birth
- premature closing of epiphyseal plates –> skeletal deformity
- -Kyphosis
- -Scoliosis
- -Dwarfism
- Typically non-ambulatory
- Sclerae blue at first and then turn white
Osteogenesis Imperfecta type 4
- Similar to type 1
- but, normal sclera
- dentinogenesis imperfecta present
Which Osteogenesis Imperfecta is the most severe
Type 2
Which Osteogenesis Imperfecta has blue eyes
Type 1 and type 3. But type 3 later turns white
Which Osteogenesis Imperfecta has premature closing of epiphyseal plates
Type 3
What is the treatment for Osteogenesis Imperfecta
- Prevent fractures: splinting and bracing
- Treat fractures/surgical rods
- Gene therapy
What is achondroplasia
- Dwarfism
- Autosomal dominant abnormality/spontaneous chromosomal defect
- Limbs are shorter disappropriate to trunk (1/2 of normal length)
- Failure of longitudinal growth in cartilage of epiphyseal plate
- Normal cognition and normal life expectancy
- Total height typically under 4 feet
- may lead to spinal stenosis
Marfan syndrome is also known as
Hyperchondroplasia
Marfan’s Syndrome is
- Autosomal dominant abnormality / spontaneous chromosomal defect
- Excessive length of limbs due to excessive longitudinal growth in cartilage of epiphyseal plate - arm span greater than height
- Systemic –affects vision and CV system
Musculoskeletal findings for someone with Marfan’s Syndrome
Muscular weakness Joint laxity Flat feet Scoliosis Depressed sternum
Treatment –sx for deformities if it affects function
What is osteopetrosis
Failure of osteoclasts to remove mineralized bone
Bone “piles up” Bone appear dense on X ray
Mechanically weak → fracture easily
Bone marrow displaced → anemia
Why is someone with osteopetrosis mechanically weak
bone is disorganised
What are the 2 forms of osteopetrosis
malignant infantile form
benign form