***Congenital Variants*** Flashcards
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
