Exam 1 Flashcards
Epidemiology is the who are the why?
The who
Etiology is the who or the why?
The why
What is Klippel-Feil syndrome?
Congenital fusion of 2 or more cervical vertebrae
Klippel-Feil Syndrome is idiopathic. What does that mean?
Your born with it. It’s not acquired
What pathology is usually seen with Klippel-Feil Syndrome?
Sprengel’s Deformity which is a fused scapula. Scapula never descended
How many people have Klippel-Feil Syndrome?
1 in 40,000
What is the difference between Type 1 and Type 2 congenital kyphosis?
Type 1 is failed development (severe)
Type 2 is failed segmentation (mild)
Why is type I congenital kyphosis severe?
The spinal cord is compressed
Which pathologies that we talked about are congenital disorders?
Achondroplasia, Cleidocranial dysplasia, osteogenesis imperfecta, osteopetrosis
What does it mean to be a congenital disorder?
An often-inherited disorder.
Congenital disorders effect what part of the skeleton?
The whole skeleton
What is dysplasia?
Mutations that interfere with growth and bone remodeling
What type of disorders is dysplasia seen in
Congenital disorders
What is Cleidocranial Dysplasia?
Absent/under developed clavicles
Besides absent/ under-developed clavicles, what other symptoms are seen with Cleidocranial dysplasia?
Dental abnormalities, delayed closure of cranial sutures, short stature
What causes Cleidocranial dysplasia?
Genetic inheritance- abnormality in RUNX2 gene
What is the RUNX2 genen important for?
Function during skeletal formation and bone maintenance
What is the most common form of dwarfism and skeletal dysplasia?
Achondroplasia
What is the main symptom of achondroplasia?
Shortened long bones
Achondroplasia increases the odds of having what?
Stenosis of foramen magnum and spinal stenosis
Define stenosis
Narrowing
What is the abnormality in the vertebrate most commonly seen with achondroplasia?
Bullet vertebrae
What are some pathologies caused by having bullet vertebrae?
Hyperlordosis, hyperkyphosis, scoliosis
Frontal bossing is another feature seen in those with achondroplasia. What is frontal bossing?
Forehead protrusion
Trident hand is typically seen with what disorder?
Achondroplasia
What is the pathogenesis (how) of achondroplasia?
Inhibited endochondral growth and decreased cartilage synthesis.
Achondroplasia’s Decreased cartilage synthesis causes what?
Short/ bowed legs, frontal bossing, mid face hypoplasia
What is the epidemiology of achondroplasia?
Epidemiology is the who if you forgot. People who have the mutated FGFR3 gene.
What is the etiology of achondroplasia?
90% of the time, the mutated FGFR3 gene is spontaneous and most commonly from sperm. 10% are autosomal dominant.
What are other names for osteogenesis imperfecta?
Brittle bone disease
Type I collagen disease
What is brittle bone disease?
A condition resulting in brittle bones and weak connective tissue due to altered type I collagen
What is the lifespan of the 2 types of Osteogenesis?
Type 1: normal lifespan
Tyler 2: lethal in utero
What is affected by Type I collagen disease?
Bones, eyes, teeth, inner ear bones, skin and joints
What is blue sclara?
When the white part of the eyes looks blue. Seen in osteogenesis imperfecta/brittle bone disease/ Type I collagen disease
What are some symptoms seen during childhood in those with type I collagen disease?
Fractures, bowing, scoliosis, hearing loss, dwarfism
What is the status of adjusting those with osteogenesis imperfecta?
It’s contraindicated
What is the pathogenesis of Brittle Bone disease?
Mutated Type 1 Collagen causing a premature breakdown. It’s autosomal dominant.
How common is Type I collagen disease?
1 in 20,000
What stands out in x rays of children with osteogenesis imperfecta that have been treated with biphosphonates?
Zebra stripes in bone
________ is associated with normal bone strength, but frequently with stenosis of the foramen magnum and lumbar spinal stenosis
Achondroplasia
_______ frequently involves localized abnormalities in development of clavicles and teeth.
Cleidocranial dysplasia
Individuals born with_______ will be affected by an incomplete formation of one or more vertebral bodies
Type I congenital kyphosis
If x-rays look radiolucent, the bone is more dense or less dense?
Less dense
X rays that are radiolucent, areas appear darker or lighter?
Darker
If someone said areas look brighter/whiter on an x ray it is called what?
Radiopaque/radiodensity
High density bone appears ________ on x ray?
Bright/white
Marble bone disease is also called what?
Osteopetrosis
T or F: bone that is very dense is stronger?
False
Why is the bone weak in osteopetrosis?
Because it never breaks down old bone. Just building new bone on top of it.
What is skeletal sclerosis?
Increased density of bone
What is osteopetrosis
Group of genetic disorders causing skeletal sclerosis, bony stenosis, and deranged hematopoiesis.
What disease did we talk about this unit that corresponds with Erlenmeyer flask deformity?
Osteopetrosis
Erlenmeyer flask deformity is also called?
Fills medulla
What type of fracture is common in osteopetrosis patients?
Chalkstick fracture aka pathologic fracture. Bone is so brittle it snaps like chalk
What is the how of osteopetrosis?
Decreased osteoclast activity causing an inability to remodel and reabsorb bone leading to thick, dense, brittle bone
Osteopetrosis has a loss of hematopoietic bone marrow causing reduced what?
Production of red and white blood cells
What is treatment of osteopetrosis?
Decreased calcium intake and/ or stem cell transplant
What is the who and why of osteopetrosis?
Inherited
What is acquired severe loss of bone density and mass?
Osteoporosis
What does a DEXA scan measure?
Bone mineral density (BMD)
Many times, patients don’t know they have osteoporosis until _________.
They have a fracture
What is osteopenia?
A milder loss of bone density and mass than what’s seen in osteoporosis
Osteopenia and osteoporosis both have decreased __________ and increased ________
Bone mass
Porosity
What are the main areas we see osteoporosis in?
Trabecular/spongy/cancellous bone.
Vertebral bodies, femoral neck, and calcaneous
What does the DEXA scan determine?
Risk for fracture
A DEXA scan greater than 2.5 deviations below is what?
Osteoporosis
Osteopenia
Osteoporosis
A DEXA scan between 1-2.5 standard deviations below is what?
Osteoporosis
Osteopenia
Osteopenia
What is a T-score?
DEXA compared to peak bone mineral density
What is Z- score?
DEXA compared to age and gender matched BMD
Is the T core or Z score more commonly used?
T score
Localized osteoporosis is caused by what?
Disuse