nichols congen/devel bone dis

Question 1

Answer 1

achondroplasia

Question 2

Answer 2

achondroplasia

Question 3

Answer 3

OI

Question 4

Answer 4

OI

Question 5

Answer 5

osteopetrosis with diffusely sclerotic bones and misformed / bulbous ends of radius/ ulna

Question 6

Answer 6

osteopetrosis w irreg traveculae and residual unremodeled cart in pink bone, recued marrow cavity

Question 7

Answer 7

osteopetrosis

Question 8

Answer 8

osteopetrosis pway

Question 10

Answer 10

aneurysmal bone cyst

Question 11

Answer 11

aneurysmal bone cyst

Question 12

Answer 12

clotted blood next to well vasc tissue in aneurysmal bone cyst

Question 13

Answer 13

fibrous cortical defect

Question 14

Answer 14

fibrous cortical defect

Question 15

Answer 15

fibrous dysplasia

Question 16

Answer 16

fibrous dyslplasia w curvilinear traveculae of woven bone surrounded by fibroblastic, collagen prolif

chinese characters!

Question 17

Answer 17

fibrous dysplasia

Question 18

Answer 18

fibrous dysplasia w moth eaten appearance

medullary

Question 19

Answer 19

giant cells in aneurysmal bone cyst

Question 20

Answer 20

non ossifying fibroma

sclerotic border

Question 21

Answer 21

non ossifying fibroma

storiform (woven mat) pattern

Question 22

Answer 22

solitary bone cyst

thin wall

Question 23

what do you need to dx bone lesion

Answer 23

site

age

sex

xray appearance

Question 24

brachydactyly: gene, clinical

Answer 24

HOXD13

short, broad terminal phalagnes of thumb/big toe

Question 25

campomelic dysplasi

Answer 25

SOX9, short bowing of long bones, small chest cavity

resp failure, sex reversal

Question 26

cleidocranial dysplasia

Answer 26

RUNX2

hypoplastic clavicles, wormian skull bones, supernumerary teeth

Question 27

Holt-Oram syndrome

Answer 27

TBX5

thumb, wrist, forearm bone hypoplasia

ASD

Question 28

nail-patella syndrome

Answer 28

LMX1B

hypoplastic nails, hypoplastic patella

dislocated radial head, prog nephropathy

Question 29

Waardenburg syndrome

Answer 29

PAX3

hearing los, partial albinism, diff colored eyes, patches of white hair, constipation

Question 30

thanatophoric dysplasia

Answer 30

HFGFR3 receptor

severe limb shortening and bowing

small chest cavity –>resp failure

Question 31

achondrogenesis II

Answer 31

COL2A1

short trunk

Question 32

metaphyseal dysplasia (Schmid type)

Answer 32

COL 10A1

short stature

Question 33

Muts in ___, ____, ___, and ___ genes cause congenital diseases of bone metab

Answer 33

OPG, RANK, RANKL, LRP5

Question 34

____ and ____ are examples of the increasingly common phenomenon of bioactive mols discovered to have fns undeducible from their names!

Answer 34

osteopontin

osteocalcin

Question 35

who is more prone to osteomyelitis? why?

Answer 35

children bc richer blood supply in growing bone

Question 36

skeletal dysplasias are diseases of _____, and ARE or ARE NOT premalignant conditions

Answer 36

disease of disordered growth but NOT premalignant!

Question 37

_________ is a group of dis primarily involving bone even though to relate to type I collagen which is in many organs

Answer 37

osteogenesis imperfecta

Question 38

what is the first genetic disease successfully tx w stem cell transplant?

Answer 38

OSTEOPETROSIS. KNOW EVERYTHING ABOUT IT

Question 39

McCune-Albright syndrome

vs

monostotic fibrous dysplasia

Answer 39

GNAS1 mut during embryogenesis = McCune Albright

GNAS1 mut in osteoblast precursor = monostotic fibrous dysplasia

Question 40

chromosomal rearragement fusing USP6geen to promoters highly expressed in osteoBlasts produce excess WHAT? result?

Answer 40

XS USP6 protease

XS NF-kB TF

XS MMP

results in cystic reabs of bone in aneurysmal bone cyst