***Congenital Variants*** Flashcards
(21 cards)
What is the most common form of dwarfism?
achondroplasia
What are 3 appendicular skeletal image findings for achondroplasia?
- -Rhizomelic limb shortening
- -Trident hands
- -Tubular bones appear widened, but are not
What are 4 axial skeletal image findings for achondroplasia?
- -Posterior vertebral body scalloping
- -“Bullet” vertebra
- -Decreased Interpedicular distance
- -Ilia are short and flat
What are 4 skull imaging findings for achondroplasia?
- -Macrocephaly
- -Frontal bossing
- -Foramen magnum stenosis
- -Arnold-Chiari malformation
Autosomal dominant disorder resulting in the abnormal development of bone
Cleidocranial dysplasia
What are 5 prominent features of cleidocranial dysplasia affecting head
- -Large head w/ delayed suture closure
- -Wormian bones
- -Hypertelorism
- -Small face
- -Dental dysplasia
What are 2 prominent features of cleidocranial dysplasia affecting the rest of the body?
- -Hypoplasia or aplasia of the clavicles
- -narrow pelvis
What are 4 prominent complications of cleidocranial dysplasia?
- -Dental anomalies
- -Hearing loss
- -Scoliosis
- -Dislocations
What 3 joint locations are associated w/ cleidocranial dysplasia?
- -Shoulder
- -Radial head
- -Hip
Familial disorder of connective tissue, primarily involving the eye, skeleton, and cardiovascular system
Marfan’s syndrome
What is the disproportionately long hands and feet appearance of those w/ Marfan’s syndrome?
arachnodactyly
What are 3 common skeletal findings w/ Marfan’s syndrome?
- -scoliosis
- -pectus deformities
- -hypermobile joints
What cardio-vascular abnormalities
- -Cystic medial necrosis of Aorta or Pulmonary arteries
- -Aortic and mitral insufficiency
What pathology is associated w/ abnormal collagen quality and quantity?
Osteogenesis imperfecta
What are the 4 major criteria for Osteogenesis Imperfecta?
- -Osteoporosis w/ bone fragility
- -Blue sclera
- -Abnormal dentition
- -Otosclerosis w/ hearing loss
What is the most common radiographic finding of Osteogenesis imperfecta?
generalized osteopenia
What pathology goes by “Brittle bone disease”?
osteogenesis imperfecta
What pathology goes by “Marble bone” disease?
osteopetrosis
What patholgoy goes by “bone w/in a bone” disease?
osteopetrosis
What is the prime defect of osteopetrosis?
FAILURE OF OSTEOCLASTOSIS
–leaving one w/ short, weak, and oddly shaped bones
What are 4 radiographic findings of Osteopetrosis?
- -Diffuse osteosclerosis
- -Bone w/in bone
- -Sandwhich vertebrae
- -Sclerotic skull base
