Exam 1 Flashcards
(179 cards)
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