Congenital Disorders Flashcards
1
Q
_______ are a group of disorders with abnormal bone/cartilage formation & remodeling
A
Skeletal dysplasias (aka osteochondrodysplasias)
2
Q
Abnormal enchondralbone development =
A
Achondroplasia
3
Q
Abnormal intramembranous bone development =
A
Cleidocranial dysplasia
4
Q
Abnormal collagen formation =
A
Marfan’s syndrome
Osteogenesis imperfecta
5
Q
- Osteopoikilosis
- Osteopathia striata
- Osteopetrosis
- Melorheostosis
These are examples of _____
A
Sclerosing bone dysplasias
6
Q
Disorder of histogenesis =
A
Neurofibromatosis
7
Q
- Autosomal dominant disturbance in growth and maturity of cartilage basedbone
- Mutation in the fibroblast growth factor receptor-3 gene
A
Achondroplasia
8
Q
Achondroplasia is associated with _____ limb shortening
A
Rhizomelic
(Proximal limb shortening)
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
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
11
Q
What is this MRI study demonstrating?
A
Achondroplasia (Small foramen magnum, canal stenosis)
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)
13
Q
What condition is likely the cause of these findings?
A
Achondroplasia - Bullet Vertebra
14
Q
What condition is likely the cause of these findings?
A
Achondroplasia - horizontal sacrum
15
Q
What condition is likely the cause of these findings?
A
Achondroplasia - Posterior Vertebral body scalloping
16
Q
What condition is likely the cause of these findings?
A
Achondroplasia - decreasing interpediculate distance
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)
18
Q
Middle limb shortening in achondroplasia (tibia/fibula and radius/ulna) =
A
Mesomelic
19
Q
Shortening of the end of the limb in achondroplasia (hands & feet) =
A
Acromelic
20
Q
Shortening of the entire limb in achondroplasia =
A
Micromelic
21
Q
This is an example of _____ limb shortening in achondroplasia
A
Rhizomelic
22
Q
This is an example of _____ in achondroplasia
A
Trident hand (3 digits in middle are same length)
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
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
25
What condition is the likely cause of these findings?
Cleidocranial Dysplasia - Wormian bones (islands of bone)
26
Wormian bones are associated with what two conditions?
Clediocranial dysplasia & Osteogenesis Imperfecta
27
What condition is the likely cause of these findings?
Cleidocranial Dysplasia (Delayed closure of fontanelles + wormian bones)
28
What condition is the likely cause of these findings?
Cleidocranial Dysplasia
(Multiple level spina bifida occulta, midline defect)
29
What condition is the likely cause of these findings?
Cleidocranial Dysplasia (Delayed ossification of pubis)
30
What condition is the likely cause of these findings?
Cleidocranial Dysplasia - Bilateral Hypoplastic (underdeveloped) Clavicle
31
What condition is the likely cause of these findings?
Cleidocranial Dysplasia - Agenesis of Right clavicle
32
What condition is the likely cause of these findings?
Cleidocranial Dysplasia - Coxa Vara
(Femoral Neck angle should be 120-130, \<120 = coxa vara, these angles closer to 90)
33
What condition is the likely cause of these findings?
Cleidocranial Dysplasia
(Additional growth center at base & hypoplastic ie. smaller distal phalanges)
34
Life expectancy of ____ is normal w/ appropriate management
Marfan Syndrome (Due to aneurysm of ascending aorta in thoracic)
35
Echocardiograph & CT are used to evaluate cardiovascular issues (such as atrial septal defect & mitral/aortic valve regurg, aortic root dilation, etc.) in what condition
Marfan Syndrome
36
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
Marfan Syndrome
37
What condition is the likely cause of these findings?
Marfan - Scoliosis + Scalloping
38
What condition is the likely cause of these findings?
Marfan (MRI)
39
What condition is the likely cause of these findings?
Marfan - Bilateral Protrusio Acetabuli
(Ilioischial line - acetabulum & femoral head should be lateral to line)
40
Axial Chest CT
Marfan - Pectus Excavatum (funnel chest)
41
What condition is the likely cause of these findings?
Marfan - Arachnodactyly
42
Similar conditions to _____ includes Ehlers-Danlos Syndrome & Homocystinuria
Marfan
43
Blue sclera, poor hearing, poor teeth =
Osteogenesis imperfecta
44
Osteogenesis imperfecta can be mistaken for but is less common than \_\_\_\_
Child abuse
45
The silence classification system of Osteogenesis Imperfecta states that type ___ is most common & type ___ is the lethal type
1
2
46
Radiographic findings of ____ include:
- Mild to profound osteoporosis (less dense bones, ostepenia)
- Wormian bones
- Biconcave vertebral bodies
- Kyphoscoliosis
- Triradiate pelvis
Osteogenesis imperfecta
47
What condition is the likely cause of these findings?
Osteogenesis imperfecta - wormian bones
48
These findings are associated with osteogenesis imperfecta and are demonstrating \_\_\_\_\_
Biconcave (or fish) vertebra
49
What condition is the likely cause of these findings?
Osteogenesis Imperfecta- Triradiate pelvis (three areas bulging into pelvis)
50
What condition is the likely cause of these findings?
Osteogenesis Imperfecta - Bowing deformities & fracture
51
What are the different descriptors for these osteogenesis imperfecta cases?
Thin & gracile (left) vs. thick & prominent (right)
52
- Benign, autosomal dominant dysplasia, increased density
- Multiple bone islands (enostomas)
- Usually asymptomatic, dont want to mistake with blastometaphysis
Osteopoikilosis
53
Radiographic findings of ____ include:
- Multiple, round opacities of variable size
- Symmetric, periarticular distribution around the joint
- Predominately appendicular
Osteopoikilosis
54
What condition is the likely cause of these findings?
Osteopoikilosis
55
- Benign autosomal dominant transmission that is related to osteopoikilosis (rare)
Radiographic findings include:
- Multiple linear opacities
- Usually bilateral
- Predominately affects long bones & pelvis
Osteopathia Striata
56
What condition is the likely cause of these findings?
Osteopathia Straiata (does not extend into epiphyseal region/growth plate)
57
- 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
Melorheostosis
58
What condition is the likely cause of these findings?
Melorheostosis
59
What condition is the likely cause of these findings?
Melorheostosis
60
What condition is the likely cause of these findings?
Melorheostosis (endosteal involvement)
61
What condition is the likely cause of these findings?
Melorheostosis
62
- 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)
Osteopetrosis
63
What condition is the likely cause of these findings?
Osteopetrosis - Diffuse Sclerosis w/ chest deformity
64
What condition is the likely cause of these findings?
Osteopetrosis - Sandwich vertebrae
65
What condition is the likely cause of these findings?
Osteopetrosis - Sandwich vertebra
66
What condition is the likely cause of these findings?
Osteopetrosis - bone within bone
67
What condition is the likely cause of these findings?
Osteopetrosis - Erlenmeyer flask
68
What condition is the likely cause of these findings?
Osteopetrosis - Pathologic Fracture
69
Neurofibromatosis clinical presentation type ___ =
- Cafe-au-lait spots
- Fibroma molluscum
Type 1
70
Neurofibromatosis clinical presentation type ___ =
- Cutaneous manifetations unusual
- Sensory hearing loss due to acoustic nerve involvement
Type 2
71
Radiographic findings of ____ include:
- Greater sphenoid wing absent
- Enlarged skull foramina
- Kyphoscoliosis
- Enlarged IVFs
- Rib erosions
- Bowing deformities & posterior vertebral body scalloping
Neurofibromatosis Type 1
72
What condition is likely the cause of these findings?
Neurofibromatosis Type 1 - Fibroma Molluscum
73
What condition is likely the cause of these findings?
Neurofibromatosis Type 1 - Enlarged IVF & posterior VB erosion
74
What condition is the likely cause of these MRI findings?
Neurofibromatosis Type 1 - Enlarged IVF & posterior VB erosion
75
What condition is the likely cause of these findings?
Neurofibromatosis Type 1 - Kyphoscoliosis
(large neurofibroma in red)
76
What condition is the likely cause of these findings?
Neurofibromatosis Type 1 - Pseudoarthrosis of Tibia
77
What condition is the likely cause of these findings?
Neurofibromatosis Type 1 - Absent of Greater Wing of Sphenoid (on right)
(Eyeball is protruding)
78
What condition is the likely cause of these findings?
Neurofibromatosis Type 1 - Rib Erosion
79
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