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Image Interp > Congenital Disorders > Flashcards

Congenital Disorders Flashcards

1
Q

_______ are a group of disorders with abnormal bone/cartilage formation & remodeling

A

Skeletal dysplasias (aka osteochondrodysplasias)

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2
Q

Abnormal enchondralbone development =

A

Achondroplasia

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3
Q

Abnormal intramembranous bone development =

A

Cleidocranial dysplasia

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4
Q

Abnormal collagen formation =

A

Marfan’s syndrome

Osteogenesis imperfecta

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5
Q
  • Osteopoikilosis
  • Osteopathia striata
  • Osteopetrosis
  • Melorheostosis

These are examples of _____

A

Sclerosing bone dysplasias

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6
Q

Disorder of histogenesis =

A

Neurofibromatosis

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7
Q
  • Autosomal dominant disturbance in growth and maturity of cartilage basedbone
  • Mutation in the fibroblast growth factor receptor-3 gene
A

Achondroplasia

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8
Q

Achondroplasia is associated with _____ limb shortening

A

Rhizomelic

(Proximal limb shortening)

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9
Q

Clinical presentation of ____ includes:

  • Recognizable from birth
  • Upper extremity more severely affected
  • “Large” cranium with prominent forehead and flat nasal bridge
  • Waddling gait
  • Protuberant abdomen and buttocks
  • Neurologic signs and symptoms due to foramen magnum and canal stenosis
A

Achondroplasia

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10
Q

Radiographic findings associated with _____ include:

  • Small foramen magnum
  • Hydrocephalus
  • “Bullet vertebra” common at thorcolumbar junction
  • Acute kyphosis
  • Posterior vertebral body scalloping
  • Increase lumbar lordosis
  • Horizontal sacrum
A

Achondroplasia

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11
Q

What is this MRI study demonstrating?

A

Achondroplasia (Small foramen magnum, canal stenosis)

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12
Q

What imaging modality and condition is demonstrated here?

A

Head CT (Sagittal on left, Coronal on right)

Achondroplasia (Small foramen magnum, hydrocephalus, prominent ventricles)

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13
Q

What condition is likely the cause of these findings?

A

Achondroplasia - Bullet Vertebra

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14
Q

What condition is likely the cause of these findings?

A

Achondroplasia - horizontal sacrum

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15
Q

What condition is likely the cause of these findings?

A

Achondroplasia - Posterior Vertebral body scalloping

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16
Q

What condition is likely the cause of these findings?

A

Achondroplasia - decreasing interpediculate distance

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17
Q

What condition is likely the cause of these findings?

A

Achondroplasia - Champagne Glass

(Squared off ileum, acetabular angle is flat, short thick femoral neck)

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18
Q

Middle limb shortening in achondroplasia (tibia/fibula and radius/ulna) =

A

Mesomelic

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19
Q

Shortening of the end of the limb in achondroplasia (hands & feet) =

A

Acromelic

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20
Q

Shortening of the entire limb in achondroplasia =

A

Micromelic

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21
Q

This is an example of _____ limb shortening in achondroplasia

A

Rhizomelic

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22
Q

This is an example of _____ in achondroplasia

A

Trident hand (3 digits in middle are same length)

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23
Q

Clinical presentations of _____ includes:

  • Most often affects skull, clavicle, axial skeleton
  • Typically large head and small face
  • Shoulders can be approximated
  • Drooping shoulders
  • Gait abnormalities
  • Dentition abnormalities
  • Short stature
A

Cleidocranial Dysplasia

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24
Q

Radiographic findings of ____ include:

  • Multiple wormian bones
  • Delayed closure of fontanelles
  • Delayed/Defective dentition (too many or few teeth)
  • Midlnie spinal defects (spina bifida occulta)
  • Wide symphysis due to delayed ossifcation
  • Narrow thorax
A

Cleidocranial Dysplasia

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25
Q

What condition is the likely cause of these findings?

A

Cleidocranial Dysplasia - Wormian bones (islands of bone)

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26
Q

Wormian bones are associated with what two conditions?

A

Clediocranial dysplasia & Osteogenesis Imperfecta

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27
Q

What condition is the likely cause of these findings?

A

Cleidocranial Dysplasia (Delayed closure of fontanelles + wormian bones)

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28
Q

What condition is the likely cause of these findings?

A

Cleidocranial Dysplasia

(Multiple level spina bifida occulta, midline defect)

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29
Q

What condition is the likely cause of these findings?

A

Cleidocranial Dysplasia (Delayed ossification of pubis)

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30
Q

What condition is the likely cause of these findings?

A

Cleidocranial Dysplasia - Bilateral Hypoplastic (underdeveloped) Clavicle

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31
Q

What condition is the likely cause of these findings?

A

Cleidocranial Dysplasia - Agenesis of Right clavicle

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32
Q

What condition is the likely cause of these findings?

A

Cleidocranial Dysplasia - Coxa Vara

(Femoral Neck angle should be 120-130, <120 = coxa vara, these angles closer to 90)

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33
Q

What condition is the likely cause of these findings?

A

Cleidocranial Dysplasia

(Additional growth center at base & hypoplastic ie. smaller distal phalanges)

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34
Q

Life expectancy of ____ is normal w/ appropriate management

A

Marfan Syndrome (Due to aneurysm of ascending aorta in thoracic)

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35
Q

Echocardiograph & CT are used to evaluate cardiovascular issues (such as atrial septal defect & mitral/aortic valve regurg, aortic root dilation, etc.) in what condition

A

Marfan Syndrome

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36
Q

Radiographic (axial) findings for ____ include:

  • May seen increased ADI
  • Scoliosis
  • Posterior vertebral body scalloping (due to dural ectasia)
  • Protrusio acetabuli
  • Pectus carinatum or excavatum
  • Spondylolisthesis
A

Marfan Syndrome

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37
Q

What condition is the likely cause of these findings?

A

Marfan - Scoliosis + Scalloping

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38
Q

What condition is the likely cause of these findings?

A

Marfan (MRI)

39
Q

What condition is the likely cause of these findings?

A

Marfan - Bilateral Protrusio Acetabuli

(Ilioischial line - acetabulum & femoral head should be lateral to line)

40
Q
A

Axial Chest CT

Marfan - Pectus Excavatum (funnel chest)

41
Q

What condition is the likely cause of these findings?

A

Marfan - Arachnodactyly

42
Q

Similar conditions to _____ includes Ehlers-Danlos Syndrome & Homocystinuria

A

Marfan

43
Q

Blue sclera, poor hearing, poor teeth =

A

Osteogenesis imperfecta

44
Q

Osteogenesis imperfecta can be mistaken for but is less common than ____

A

Child abuse

45
Q

The silence classification system of Osteogenesis Imperfecta states that type ___ is most common & type ___ is the lethal type

A

1

2

46
Q

Radiographic findings of ____ include:

  • Mild to profound osteoporosis (less dense bones, ostepenia)
  • Wormian bones
  • Biconcave vertebral bodies
  • Kyphoscoliosis
  • Triradiate pelvis
A

Osteogenesis imperfecta

47
Q

What condition is the likely cause of these findings?

A

Osteogenesis imperfecta - wormian bones

48
Q

These findings are associated with osteogenesis imperfecta and are demonstrating _____

A

Biconcave (or fish) vertebra

49
Q

What condition is the likely cause of these findings?

A

Osteogenesis Imperfecta- Triradiate pelvis (three areas bulging into pelvis)

50
Q

What condition is the likely cause of these findings?

A

Osteogenesis Imperfecta - Bowing deformities & fracture

51
Q

What are the different descriptors for these osteogenesis imperfecta cases?

A

Thin & gracile (left) vs. thick & prominent (right)

52
Q
  • Benign, autosomal dominant dysplasia, increased density
  • Multiple bone islands (enostomas)
  • Usually asymptomatic, dont want to mistake with blastometaphysis
A

Osteopoikilosis

53
Q

Radiographic findings of ____ include:

  • Multiple, round opacities of variable size
  • Symmetric, periarticular distribution around the joint
  • Predominately appendicular
A

Osteopoikilosis

54
Q

What condition is the likely cause of these findings?

A

Osteopoikilosis

55
Q
  • Benign autosomal dominant transmission that is related to osteopoikilosis (rare)

Radiographic findings include:

  • Multiple linear opacities
  • Usually bilateral
  • Predominately affects long bones & pelvis
A

Osteopathia Striata

56
Q

What condition is the likely cause of these findings?

A

Osteopathia Straiata (does not extend into epiphyseal region/growth plate)

57
Q
  • Can be seen with osteopoikilosis & osteopathia striata
  • Usually manifests in childhood, tends to be painful (differentiating)

Radiographic findings include:

  • Wavy cortical hyperostosis (flowing candle wax)
  • Involves several bones in an extremity
  • Any bone region can be affected
  • Likes one side of the bone
  • Affects periosteum & endosteum
A

Melorheostosis

58
Q

What condition is the likely cause of these findings?

A

Melorheostosis

59
Q

What condition is the likely cause of these findings?

A

Melorheostosis

60
Q

What condition is the likely cause of these findings?

A

Melorheostosis (endosteal involvement)

61
Q

What condition is the likely cause of these findings?

A

Melorheostosis

62
Q
  • Result of deficit of osteoclast activity (can result in lack of medullary space)

Radiographic findings include:

  • Diffuse osteosclerosis
  • Bone within bone
  • Sandwich vertebrae
  • Erlenmeyer flask deformity
  • Bones appear strong but weak (fractures)
A

Osteopetrosis

63
Q

What condition is the likely cause of these findings?

A

Osteopetrosis - Diffuse Sclerosis w/ chest deformity

64
Q

What condition is the likely cause of these findings?

A

Osteopetrosis - Sandwich vertebrae

65
Q

What condition is the likely cause of these findings?

A

Osteopetrosis - Sandwich vertebra

66
Q

What condition is the likely cause of these findings?

A

Osteopetrosis - bone within bone

67
Q

What condition is the likely cause of these findings?

A

Osteopetrosis - Erlenmeyer flask

68
Q

What condition is the likely cause of these findings?

A

Osteopetrosis - Pathologic Fracture

69
Q

Neurofibromatosis clinical presentation type ___ =

  • Cafe-au-lait spots
  • Fibroma molluscum
A

Type 1

70
Q

Neurofibromatosis clinical presentation type ___ =

  • Cutaneous manifetations unusual
  • Sensory hearing loss due to acoustic nerve involvement
A

Type 2

71
Q

Radiographic findings of ____ include:

  • Greater sphenoid wing absent
  • Enlarged skull foramina
  • Kyphoscoliosis
  • Enlarged IVFs
  • Rib erosions
  • Bowing deformities & posterior vertebral body scalloping
A

Neurofibromatosis Type 1

72
Q

What condition is likely the cause of these findings?

A

Neurofibromatosis Type 1 - Fibroma Molluscum

73
Q

What condition is likely the cause of these findings?

A

Neurofibromatosis Type 1 - Enlarged IVF & posterior VB erosion

74
Q

What condition is the likely cause of these MRI findings?

A

Neurofibromatosis Type 1 - Enlarged IVF & posterior VB erosion

75
Q

What condition is the likely cause of these findings?

A

Neurofibromatosis Type 1 - Kyphoscoliosis

(large neurofibroma in red)

76
Q

What condition is the likely cause of these findings?

A

Neurofibromatosis Type 1 - Pseudoarthrosis of Tibia

77
Q

What condition is the likely cause of these findings?

A

Neurofibromatosis Type 1 - Absent of Greater Wing of Sphenoid (on right)

(Eyeball is protruding)

78
Q

What condition is the likely cause of these findings?

A

Neurofibromatosis Type 1 - Rib Erosion

79
Q

Identify the findings and diagnosis/differential diagnosis as appropriate

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80
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81
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