Weird Diseases Flashcards
What is the most common congenital dwarfing skeletal dysplasia?
Achondroplasia
Unique about the life expectancy and mental state of those with achondroplasia?
Normal
Which long bones are primarily affected by achondroplasia?
Rhizomelic (proximal)
What is the characteristic appearance of the hands in those with achondroplasia?
Trident hands
What radiographic pelvic feature is associated with achondroplasia?
“Champagne glass” (narrow broad pelvic inlet)
How is the shape of the sacrum different in those with achondroplasia?
Horizontal in nature
What changes are seen with the pedicles of those with achondroplasia?
Short pedicles with narrowed interpediculate distance (leading to narrow spinal canal)
Scalloping of what margin of the vertebral body is seen in those with achondroplasia?
Posterior body margins
Cleidocranial dysplasia is a defect of what kind of bone growth and therefore affects which bones?
Intramembranous (affects skull, clavicle)
How are the skull and clavicle changed by cleidocranial dysplasia?
Skull = inverted "pear-shape" Clavicle = hypoplasia or aplasia
What causes Marfan’s syndrome?
Failure to produce normal collagen
What are some imaging features of Marfan’s syndrome?
Scoliosis, acetabular protrusion, pectus excavatum
Tall stature, arachnodactyly, heart valve defects, aortic aneurysm, and lens dislocation are all clinical features of what condition?
Marfan’s syndrome
What structure is abnormal in those with osteogenesis imperfecta?
Type I collagen
Blue sclera and abnormal dentition are associated with what condition?
Osteogenesis imperfecta
What are the radiographic findings of osteogenesis imperfecta?
Osteopenia, bowed long bones, thin cortices, multiple fractures, kyphoscoliosis
What is osteogenesis imperfecta usually confused with initially?
Child abuse (due to multiple fractures)
Does osteopetrosis involve decreased osteoblast or osteoclast activity?
Osteoclast
A “bone within a bone” or “endobone” is associated with what condition?
Osteopetrosis
Sandwich vertebrae and Erlenmeyer flask deformity are associated with what condition?
Osteopetrosis
In what two conditions do we see Rugger-Jersey spine?
HPT and osteopetrosis
What is the hallmark feature of osteopetrosis upon X-ray?
Overall radiodensity (WHITE!)
What is the most common form of osteopetrosis (also an AKA)?
Albers-Schoenberg Disease
What is another name for osteopetrosis?
Marble Bone Disease
What changes to the frontal sinuses are seen with osteopetrosis?
Hypoplasia
“Bullet” vertebrae are associated with what condition?
Achondroplasia
