Exam 1 Flashcards
What is Dysostosis?
Developmental anomaly of bone
What are homeobox genes?
Groups of genes, encode for structural development during embryogenesis
What is dysplasia
Mutations interfere with growth or homeostasis (dwarfism)
What is syndactyly
The fusion of digits from malformation
What is osteogenesis
Bone disorder with mutations to type 1 collagen
Osteogenesis imperfecta what does it do?
Premature bone breakdown, Alpha 1,2 chains are messed up. Autosomal dominant
Bones, eyes, teeth, inner ear bones, skin joints
Which type of osteogenesis imperfecta kills in utero
Type 2
Type 1- normal lifespan
Symptoms of osteogenesis imperfecta
Extremity bowing, scoliosis, dislocations, ligamentous laxity, hearing loss, short stature,
BLUE SCLERA
What disease is associated with Zebra Stripe Sign
Osteogenesis imperfecta
Children with it have be treated with supplements which give the appearance of zebra stripes in the bones
What are the 3 most common forms of dwarfism?
Achondroplasia
Osteogenesis imperfecta
Turner Syndrome
What disease is associated with FGFR3
Achondroplasia
Mutated Fibroblast Growth Factor Receptor
75% are spontaneous
Rest are inherited, autosomal dominant
Symptoms of achondroplasia
Frontal bossing of the skull
Bullet shaped vertebral bodies
Brain stem compression from small foramen magnum
Spinal canal raduclopathy in lumbars
Trident hand
What is thanatophoric dwarfism
Extremely small thorax, and short long bones
Rare
Fatal results in still births
Osteopetrosis is known as
Marble bone disease
What is osteopetrosis
Osteoclasts- are downregulated
Results in stone like bone increase in fractures
Recurrent infections
What is the treatment of osteopetrosis
Decrease calcium intake
Stem cell replacement
What is osteoporosis
Impacts trabecular bone
Can thin the cortex in advanced cases
Osteoporosis is a severe form of???
Osteopenia
Decrease in bone mass and increase in porosity
T-score must be 2.5 SD away from normal
What is pager disease
Excessive bone formation
Greater bone mass but its weak
Sclerotic (burnout) phase
Leaves a “shaggy” appearance
How to diagnose pages disease?
Increase in alkaline phosphates in serum which is a by product of osteoblast activity
Can have a mosaic pattern aka “jigsaw puzzle” look
What causes pagets?
Its idiopathic, some PARAMYXOVIRIDAE antigens
80% of cases are asymptomatic