1. Jeff Binder R.T. (R)
Skeletal Dysplasia

2. X Condition Brittle Sclerosing Melorheostosis Osteopetrosis
Osteopoikilosis
Progressive Diaphyseal Dysplasia (PDD)
Pyknodysotosis
Osteogensis Imperfecta

3. Achondroplasia Squared off pelvis
Champaign glass pelvis (caused by anterior pelvic tilt)
Squared scapula
Widest pedicle spacing at L1 tapering to smallest spacing at L5 (reverse from normal)
Rhizomelia: “short root”, Single long bones (humerus, femur) are short but normal diameter
Bullet nose vertebra: rounded front of vertebrae by defective development of growth plate
Scalloped posterior vertebra: caused by dural ectasia
Canal stenosis: 3rd decade
DJD: 3rd decade
Trident hand: separation of 3rd and 4th fingers
Hyperlordotic lumbar spine
Small foramen magnum: MOST LETHAL ASPECT

4. Osteopetrosis “BONE WITHIN A BONE”
Fetal bone (primordial) never retreats
“chalk bone” appearance (very dense on film)
Erlenmeyer flask deformity: flared metaphysis of long bones
Dental caries and abscess formation associated
Sandwich vertebra (also called rugger jersey)
Anemia is the most lethal aspect
Reduction in red marrow due to decreased medullary bone
Increased urine Ca levels (only slightly)
abnormal bone scans (increased bone production)

5. Melorheostosis Normal Cortical bone distributed improperly
Strong bones
Bone grown inside and outside of normal bones
Only dysplasia that does this
Dripping wax appearance
No anemia
Cortical thickening and wavy appearance
Can cause peripheral nerve entrapment

6. Osteogenesis Imperfecta
Mucopolysaccharidoses
Brittle bone disease
NOT sclerosing
Arachnodactyly: Long finger/toe appearance due to thinner bones
Brachydactyly: short finger/toe appearance due to premature growth plate closure
Sheppard’s crook deformity: hook like deformity of the femure
Blue sclera: caused by brown choroid visualized through abnormal
Dental problems
Bluish gray to yellowish brown opalescent teeth
Malformed dentin leading to easy chipping and severe caries
Osteoporosis
Wormian bones: not pathognomonic of OI
Multiple fractures: causes excess callus formation on bones
Biconcave vertebral bodies
Undertubularization: narrow bones

7. Osteopoikilosis Spotty bone disease Benign Asymptomatic
Normal cortical bone growth
Completely within bony margins
If not within bony margins look for another diagnosis
R/O osteoblastic mets in patients over 50yrs
Bone scan will be normal in osteopoikilosis; abnormal in osteoblastic mets (hot spots)
MRI will show a void in signal
Cortical bone is black on MRI therefore areas of cortical bone growth are black

8. Spondyloepiphyseal Dysplasia
“heaped up vertebra” or “humped shaped vertebra”
Caused by the non-ossification of the ring epiphysis
Thin disk spaces
Short vertebral bodies= short stature; Platyspondly
Premature DJD
Hip and knee invovlement
Subchondral chondrosis

9. Progressive Diaphyseal Dysplasia
Engelmann’s Disease
Cortical thickening of long tubular bones
CORTICAL BONE ADDED ONLY TO THE INTERIOR OF BONES
Poor muscular development
Increased osteoblastic activity
Bone scan will show
Fusiform widening of only the Diaphysis

10. Pyknodysostosis Sclerosing and brittle bone disease
Altered craniofacial ratio
“elfin like features”; small face, normal sized head
Obtuse angle of the jaw
Acroosteolysis: reabsorption of the distal phalanges
Madelung’s deformity
Bowing and overgrowth of the radius contributing to abnormal radioulnar articulations
Dental carries with possible osteomyelitis of mandible

11. Marfan’s Syndrome
Arachnodactyly: elongation of the fingers without an increase in width
Lens (eye) dislocation
Aortic aneurysms
45% acquire scoliosis
Tall thin people
Positive thumb sign
Pectis excavatum: sternum close to the spine “caved in”
1/3 have congenital heart disease
Atrial septal defect is the most frequent
Failure to produce normal collagen
Poor quality
Dental carries

12. Cleidocranial Dysostosis
Midline structure deformities
Clavicular hypoplasia
Pubic symphysis midline deformity
Spina bifida
Cleft palate
Wormian bones
Widening of coronal and saggital sutures “hot cross bun appearance”
Funnel shaped chest
Hypoplastic and tapered distal phalanges
Biconvex vertebral bodies

13. Other presentations Brachycephaly: “short skull”
Premature coronal suture closure
P-A distance decreased
Scaphocephaly: “boat head”
Premature saggital suture closure
S-I distance decreased
Synphalagism
No joints in a finger; finger 1 continuous bone
Syndactyly: “mitten hand”
No soft tissue separation in the hand

14. Trichorhinophalangeal
Hair, nose, finger
Course hair
Long nose
Finger abnormalities

15. Stippled epiphysis
Fragmented primary ossification center
Benign