Musculoskeletal Pathologies Flashcards
Dysostosis
Developmental anomaly of bone or cartilage
Syndactyly frequency
1 in 2,500 births
Sprengel’s deformity
Undescended scapula
Sprengel’s deformity can cause
Renal and cardiac malformations
Dysplasia
Mutations interfere with growth
Height to be considered a dwarf
<4’10”
MC form of dwarfism
Achondroplasia
Mutated gene in achondroplasia
FGFR3
Achondroplasia
___ are spontaneous
___ are autosomal dominant
90%
10%
Spontaneous achondroplasia MC from
Sperm (high paternal age)
Freq of achondroplasia
1 in 10,000
____ is inhibited in achondroplasia
Growth plates
Symptoms of achondroplasia
Short/bowed long bones
Frontal bossing
Midface hypoplasia
Trident hand
Frontal bossing
Excessive curvature of frontal bone
Bullet vertebrae in achondroplasia an cause
Hyperlordosis
Kyphosis
Scoliosis
Spinal abnormalities in achondroplasia
Bullet vertebrae
Spinal stenosis
Spinal stenosis can occur in
Foramen magnum
Spinal canal
Achondroplasia treatment growth hormone
Somatotropin
Thanatophoric dwarfism
Extremely small thorax and short long bones
Thanatophoric dwarfism is __ and ___
Rare
Fatal
Osteogenesis imperfecta aka
Brittle bone disease
Type 1 collagen disease
Thanatophoric means
Death loving
Type 1 osteogenesis imperfecta
Normal lifespan
Type 2 osteogenesis imperfecta
Lethal in utero
Osteogenesis imperfecta is autosomal ___
Dominant
Osteogenesis imperfecta results in
Mutated type 1 collagen
Alpha 1 or 2 chains
Childhood osteogenesis imperfecta can result in
Fractures Bowing Scoliosis Hearing loss Dwarfism
Cleidocranial dysostosis
Absent clavicle
Klippel-feil syndrome
Congenital fusion of >2 cervical vertebrae
“Blue sclera” can be observed in this condition
Osteogenesis imperfecta
Adjusting is ___ in osteogenesis imperfecta
Contraindicated
Zebra stripe sign
Bisphosphonates cyclically given to treat osteogenesis imperfecta in children
Osteopetrosis aka
Marble bone disease
Osteopetrosis has low ___ activity
Osteoclasts
Treatment for osteopetrosis
Low calcium intake
Stem cell transplant
Skeletal sclerosis
Hardening
Bony stenosis in osteopetrosis can cause
CN palsies
Osteopetrosis can cause abnormal
Hematopoiesis
Abnormal hematopoiesis can cause
Fatigue (low RBC)
Infections (low WBC)
X-ray features of osteopetrosis
No medullary canal
Erlenmeyer flask deformity
Osteoporosis
Severe bone mineral density reduction at least -2.5 SD from normal
Osteoporosis is evaluated with a ___ scan
DEXA
Osteoporosis fractures are common in
Trabecular bone
MC places for fracture with osteoporosis
Vertebral bodies
Femur
Calcaneus
Osteopenia
Bone mineralization below normal but not severe
Between 1 and 2.5 SD below normal
Bone mineralization peaks between
25-30 yo
Osteoblasts activity ____ with age
Decreases
Senile osteoporosis
Age related loss in bone mineralization
Activity decreases with age, which ___ bone loss
Accelerates
Menopause causes ___ osteoclast Activity
Accelerated
Osteoclast activity in menopause is stimulated by
Low estrogen
Compression fractures on vertebral bodies can cause ___ (MC in women with osteoporosis)
Dowager’s hump