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Diseases- Ari > Developmental Bone Disorders > Flashcards

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
Q

Imperfect growth of bone =

A

Osteogenesis Imperfecta

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26
Q

Lobstein disease, brittle bone disease, blue sclera syndrome, fragile bone disease =

A

Osteogenesis Imperfecta

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27
Q

Osteogenesis Imperfecta is associated with defect in…

A

COL1A gene

type I collagen production

both quality and quantity

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28
Q

Osteogenesis Imperfecta has an inheritance pattern of…

A

autosomal dominant for COL1A

some autosomal recessive

others, sporadic

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29
Q

Skin punch biopsy or blood test can be used to diagnose…

A

Osteogenesis Imperfecta

30
Q

What are the most common forms of Osteogenesis Imperfecta?

A

Type I and III

31
Q

Physical exam findings of: blue sclera, traigular facies, defective dentition, macrocephaly, scoliosis, limb deformities, joint laxity
hearing loss, growth retardation

A

Osteogenesis Imperfecta

32
Q

You have to rule out other diagnoses such as non-accidental trauma when considering diagnosing…

A

Osteogenesis Imperfecta

33
Q

Lab evaluation for Osteogenesis Imperfecta include…

A

microscopic analysis of collagen synthesis

DNA analysis for COL1A mutation

DNA testing in fetus (60-94% accuracy)

Skin punch biopsy

34
Q

You can detect what types of Osteogenesis Imperfecta with prenatal ultrasonography?

A

Type II and III

35
Q

Prenatal Ultrasonography for Osteogenesis Imperfecta is best if done at…

A

15-18 weeks gestation

36
Q

In prenatal ultrasonography for Osteogenesis Imperfecta, you’ll see…

A

visualization of intracranial contents

bowing of long bones

rib fractures

shortened femurs

37
Q

Radiographic findings associated with Osteogenesis Imperfecta include…

A

wormian bones

enlargement of frontal and mastoid sinuses

platybasia (flat base of skull) with or without basilar impression

38
Q

Pectus carinatum is associated with…

A

Osteogenesis Imperfecta

39
Q

Narrow pelvis, protrusio acetabuli (ball is punching outward), and shepard’s crook deformity of femurs is seen in….

A

Osteogenesis Imperfecta

40
Q

What disorder has individuals healing well but healing with bone that doesn’t function correctly?

A

Osteogenesis Imperfecta

41
Q

What is a treatment option for Osteogenesis Imperfecta?

A

Bisphosphonate infusion

42
Q

What will you see in an x-ray for bisophosphonate infusion?

A

hard line of bone in radiography

43
Q

olceranon fractures are uncommon and distinguishing for…

A

Osteogenesis Imperfecta

44
Q

Bisphosphonate use results in…

A

increased trabeculae and cortical thickness

increased bone density

improved vertebral morphology

45
Q

What treatment helps with decreasing fractures and deformity of bones for Osteogenesis Imperfecta and other disorders?

A

Bisphosphonate infusion

46
Q

Bisphosphonate infusion is used mostly for what type of Osteogenesis Imperfecta?

A

Type III- the worst

47
Q

What are other therapy options for Osteogenesis Imperfecta?

A

Vitamin supplementation- calcium, phosphorus, vit D

Surgery- straight bones and intramedullary implants

48
Q

What are the available types of implants for surgery of Osteogenesis Imperfecta?

A

Expandable- Baily Dubow Rods and Fassier Duvall Rods

Non-Expandable- Rush Rods and Flexible Nails

49
Q

What are future directions for treating Osteogenesis Imperfecta?

A

Bone marrow transplants

Stem cell therapy

Gene therapy

50
Q

What disorder is linked to defect in FBN-1

A

Marfan Syndrome

51
Q

Marfan Syndrome is…

A

Heritable
Genetic defect in FBN-1
Abnormal collagen production and elastin

52
Q

Tall stature, aortic root dilitation, hypermobility, optic lens dislocation, striae are associated with…

A

Marfan Syndrome

53
Q

Ehlers-Danlos is a…

A

heritable disorder with some similarities to Marfan but not as bad

54
Q

Ehlers-Danlos is a defect in

A

collagen and elastin

55
Q

Fragile Hyperelastic Skin, joint hypermobility, early development of OA, painful joint dislocations are associated with…

A

Ehlers-Danlos

56
Q

Major criteria for Ehlers-Danlos include…

A

small finger hyperextension

thumb touches forearm

elbow hyperextension

knee hyperextension

trunk flexion

57
Q

Minor criteria for Ehlers-Danlos include…

A

More than one instance of joint sublaxation or dislocation

more than 3 soft tissue tendinopathies

abnormal skin with striae (stretch marks) or hyperextensibility

58
Q

Acoustic neuromas as associated with…

A

Neurofibromatosis Type 2

59
Q

Neurofibromatosis Type I is a genetic mutation on which chromosome?

A

17

60
Q

von Racklinghausen

A

NF-1 disorder

61
Q

Neurofibromatosis Type I is an autosomal-_____

A

dominant disorder

62
Q

Cafe-au-lait spots, neurofibromas, freckling, optical glioma, lisch nodules, bone lesions, family history of disorder are related to…

A

Neurofibromatosis Type I

63
Q

Neurofibromata are made up of which cell type?

A

Schwann cells and fibrous tissue

rarely causes problems

64
Q

Plexiform neurofibromas are…

A

very vascular and can lead to disfigurement and gigantism

65
Q

What type of bowing is seen in Neurofibromatosis Type I?

A

Antero-lateral bowing of tibia which can fracture and get pseudoarthroses

66
Q

What type of bracing should be used for Neurofibromatosis Type I and associated antero-lateral bowing of tibia?

A

clamshell bracing for tibia

67
Q

What type of scoliosis is most commonly associated with Neurofibromatosis Type I?

A

Dystrophic

68
Q

Dystrophic scoliosis is associated with…

A

short and sharp angulation

69
Q

Tibial bowing seen in ______ should be fixed with clamshell brace that fixes with a _______ _______ device

A

Neurofibromatosis Type I

load sharing

70
Q

Neurofibromatosis Type 2 is associated with a mutation in…

A

Schwannomin gene

71
Q

Type 2 is associated with fewer…. but more….

A

neurofibromas

intracranial lesions- explains the acoustic neuromas being more common

Diseases- Ari (4 decks)

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