Powerpoint BS Flashcards
MC congenital dwarfing skeletal dysplasia
Achondroplasia
In achondroplasia, ______ accounts for major amount of shortenings
rhizomelic
Features of Achondroplasia
shortened bones (especially proximal), thoracolumbar kyphosis, trident hands, failure of enchondral cartilage growth at physis, narrowing of spinal canal, small foramen magnum, symmetric shortening of long bones
Rad features in pelvis-achondroplasia
narrow, broad pelvic inlet (champagne glass) broad ilia, ribs, sternum broad and short
Rad features in extremities-achondroplasia
short, thick tubular bones metaphyseal cupping (splayed appearance)
Rad features in spine-achondroplasia
posterior body scalloping, short pedicles with narrowed interpediculate distance leading to narrow/trefoil spinal canal, decreases caudally, rounded “Bullet” vertebrae, platyspondyly, horizontal sacrum
Rad features in skull-achondoplasia
macrocephaly, frontal bossing, foramen magnum stenosis, associated w/ Arnold-Chiari malformation (herniation of cerebellar tonsils >4mm)
Clinical features in achondroplasia
waddling gait, broad and flat nasal bridge
defect of intramembranous bone growth generalized dysplasia, below avg ht, large head, drooping shoulders
cleidocranial dysplasia
Imaging features of cleidocranial dysplasia
Pelvis: pubic diastasis skull: inverted “pear shape”, wormian bones clavicles: hypoplasia
collagen disorder fails to produce normal collagen
Marfan’s syndrome
Imaging features of Marfans
scoliosis, acetabular protrusion, pectus excavatum
Clinical features of Marfans
tall stature, arachnodactyly, heart valve defects, aortic aneurysm, lens dislocation
inherited disorder marked by abnormal type 1 collagen formation
osteogenesis imperfecta
4 major clinical criteria for Osteogenesis Imperfecta
skeletal fragility, blue sclera, abnormal dentition, premature otosclerosis
Imaging features of osteogenesis imperfecta
osteopenia, bowed long bones, thin cortices, multiple fractures (patho), kyphoscoliosis
Clinical features of osteogenesis imperfecta
may be lethal at birth, confused w/ child abuse, treatment directed at limiting deformity and injury
sclerosing bone disease, hereditary & familial, abnormality of decreased osteoclastic activity (chalk deformity)
Osteopetrosis
“marble bone”
Osteopetrosis
Loss of medullary space, patho fx, dense bones w/ thick cortices, hypoplasia of frontal sinuses, “endobone”, “sandwich” vertebrae, undertubulation of extremities resulting in an “erlenmeyer flask” deformity
Osteopetrosis
Brittle Bone
Osteogenesis Imperfecta
Hallmark for HPT
salt/pepper skull, lamina dura disappears, subperiosteal reabsorption, radial side of prox/distal middle phalanges
Paint-brush, frayed, splayed, cupped
Rickets
Albers-Schoenberg Disease
Osteopetrosis
