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