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Developmental Bone Disorders Flashcards

1
Q

Genu varum, kyphosis, trident hand, and stenosis are associated with…

A

Achondroplasia

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2
Q

What is the gene mutation for Achondroplasia?

A

FGFR-3 defect

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3
Q

What is the MOA of the Achondroplasia defect?

A

FGFR-3 defect on chromosome 4

Mutation substitutes an Arginine for a Glycine

Functions as a transmembrane receptor at the physis

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4
Q

“Without Cartilage Formation”

A

Achondroplasia

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5
Q

Foramen Magnum Stenosis, thoracolumbar kyphosis, spinal stenosis, genu varum, short stature

A

Achondroplasia

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6
Q

Where does kyphosis occur in Achondroplasia?

A

thoracolumbar region

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7
Q

Bowing of the knees (genu varum) is associated with…

A

Achondroplasia

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8
Q

Osteopetrosis is a problem with…

A

not breaking down or resorbing bone

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9
Q

What cells are involved with osteopetrosis?

A

Defect in osteoclasts

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10
Q

Is achondroplasia genetic?

A

Yes.

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11
Q

Osteopetrosis is a _____ disorder and is also known as ______

A

Genetic

Marble Bone Disease

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12
Q

What defect is related to osteopetrosis?

A

defect in osteoclast resorption –> dense and brittle bone

root cause:
defect in acidification of bone –> defect in osteoclast function

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13
Q

Malignant or infantile Type Osteopetrosis is a mutation in… with inheritance pattern of…

A

Gene: TCIRG1

Autosomal recessive

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14
Q

TCIRG1 mutation leads to…

A

proton pump defect

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15
Q

Osteopetrosis that presents in infancy, severe osteosclerosis, hearing loss, visual loss, anemia, death in first decade

A

Malignant or infantile Type Osteopetrosis

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16
Q

Intermediate Osteopetrosis

A

Autosomal recessive

Mutation in CLCN7 and CAII

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17
Q

CLCN7 is associated with…

A

function of chloride channel

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18
Q

CAII is associated with function of…

A

carbonic anhydrase II

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19
Q

Benign or autosomal dominant osteopetrosis type II

A

autosomal dominant

CLCN 7 mutation

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20
Q

Renal acidosis, cranial nerve palsies, cerebral calcification

A

Intermediate Osteopetrosis

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21
Q

frequent fractures, coxa vera, back pain

A

Benign

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22
Q

Rugger Jersey Spine

A

Osteopetrosis

dense bone, can’t see through it in x-ray

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23
Q

Osteogenesis Imperfecta is commonly associated with a defect in…

A

COL1A, abnormal collagen

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24
Q

Type I collagen is found in…

A

bones, teeth, ligaments, sclera

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25
Imperfect growth of bone =
Osteogenesis Imperfecta
26
Lobstein disease, brittle bone disease, blue sclera syndrome, fragile bone disease =
Osteogenesis Imperfecta
27
Osteogenesis Imperfecta is associated with defect in...
COL1A gene type I collagen production both quality and quantity
28
Osteogenesis Imperfecta has an inheritance pattern of...
autosomal dominant for COL1A some autosomal recessive others, sporadic
29
Skin punch biopsy or blood test can be used to diagnose...
Osteogenesis Imperfecta
30
What are the most common forms of Osteogenesis Imperfecta?
Type I and III
31
Physical exam findings of: blue sclera, traigular facies, defective dentition, macrocephaly, scoliosis, limb deformities, joint laxity hearing loss, growth retardation
Osteogenesis Imperfecta
32
You have to rule out other diagnoses such as non-accidental trauma when considering diagnosing...
Osteogenesis Imperfecta
33
Lab evaluation for Osteogenesis Imperfecta include...
microscopic analysis of collagen synthesis DNA analysis for COL1A mutation DNA testing in fetus (60-94% accuracy) Skin punch biopsy
34
You can detect what types of Osteogenesis Imperfecta with prenatal ultrasonography?
Type II and III
35
Prenatal Ultrasonography for Osteogenesis Imperfecta is best if done at...
15-18 weeks gestation
36
In prenatal ultrasonography for Osteogenesis Imperfecta, you'll see...
visualization of intracranial contents bowing of long bones rib fractures shortened femurs
37
Radiographic findings associated with Osteogenesis Imperfecta include...
wormian bones enlargement of frontal and mastoid sinuses platybasia (flat base of skull) with or without basilar impression
38
Pectus carinatum is associated with...
Osteogenesis Imperfecta
39
Narrow pelvis, protrusio acetabuli (ball is punching outward), and shepard's crook deformity of femurs is seen in....
Osteogenesis Imperfecta
40
What disorder has individuals healing well but healing with bone that doesn't function correctly?
Osteogenesis Imperfecta
41
What is a treatment option for Osteogenesis Imperfecta?
Bisphosphonate infusion
42
What will you see in an x-ray for bisophosphonate infusion?
hard line of bone in radiography
43
olceranon fractures are uncommon and distinguishing for...
Osteogenesis Imperfecta
44
Bisphosphonate use results in...
increased trabeculae and cortical thickness increased bone density improved vertebral morphology
45
What treatment helps with decreasing fractures and deformity of bones for Osteogenesis Imperfecta and other disorders?
Bisphosphonate infusion
46
Bisphosphonate infusion is used mostly for what type of Osteogenesis Imperfecta?
Type III- the worst
47
What are other therapy options for Osteogenesis Imperfecta?
Vitamin supplementation- calcium, phosphorus, vit D Surgery- straight bones and intramedullary implants
48
What are the available types of implants for surgery of Osteogenesis Imperfecta?
Expandable- Baily Dubow Rods and Fassier Duvall Rods Non-Expandable- Rush Rods and Flexible Nails
49
What are future directions for treating Osteogenesis Imperfecta?
Bone marrow transplants Stem cell therapy Gene therapy
50
What disorder is linked to defect in FBN-1
Marfan Syndrome
51
Marfan Syndrome is...
Heritable Genetic defect in FBN-1 Abnormal collagen production and elastin
52
Tall stature, aortic root dilitation, hypermobility, optic lens dislocation, striae are associated with...
Marfan Syndrome
53
Ehlers-Danlos is a...
heritable disorder with some similarities to Marfan but not as bad
54
Ehlers-Danlos is a defect in
collagen and elastin
55
Fragile Hyperelastic Skin, joint hypermobility, early development of OA, painful joint dislocations are associated with...
Ehlers-Danlos
56
Major criteria for Ehlers-Danlos include...
small finger hyperextension thumb touches forearm elbow hyperextension knee hyperextension trunk flexion
57
Minor criteria for Ehlers-Danlos include...
More than one instance of joint sublaxation or dislocation more than 3 soft tissue tendinopathies abnormal skin with striae (stretch marks) or hyperextensibility
58
Acoustic neuromas as associated with...
Neurofibromatosis Type 2
59
Neurofibromatosis Type I is a genetic mutation on which chromosome?
17
60
von Racklinghausen
NF-1 disorder
61
Neurofibromatosis Type I is an autosomal-_____
dominant disorder
62
Cafe-au-lait spots, neurofibromas, freckling, optical glioma, lisch nodules, bone lesions, family history of disorder are related to...
Neurofibromatosis Type I
63
Neurofibromata are made up of which cell type?
Schwann cells and fibrous tissue rarely causes problems
64
Plexiform neurofibromas are...
very vascular and can lead to disfigurement and gigantism
65
What type of bowing is seen in Neurofibromatosis Type I?
Antero-lateral bowing of tibia which can fracture and get pseudoarthroses
66
What type of bracing should be used for Neurofibromatosis Type I and associated antero-lateral bowing of tibia?
clamshell bracing for tibia
67
What type of scoliosis is most commonly associated with Neurofibromatosis Type I?
Dystrophic
68
Dystrophic scoliosis is associated with...
short and sharp angulation
69
Tibial bowing seen in ______ should be fixed with clamshell brace that fixes with a _______ _______ device
Neurofibromatosis Type I load sharing
70
Neurofibromatosis Type 2 is associated with a mutation in...
Schwannomin gene
71
Type 2 is associated with fewer.... but more....
neurofibromas intracranial lesions- explains the acoustic neuromas being more common

Diseases- Ari (4 decks)

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