***Congenital Variants*** Flashcards

1
Q

What is the most common form of dwarfism?

A

achondroplasia

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2
Q

What are 3 appendicular skeletal image findings for achondroplasia?

A
  • -Rhizomelic limb shortening
  • -Trident hands
  • -Tubular bones appear widened, but are not
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3
Q

What are 4 axial skeletal image findings for achondroplasia?

A
  • -Posterior vertebral body scalloping
  • -“Bullet” vertebra
  • -Decreased Interpedicular distance
  • -Ilia are short and flat
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4
Q

What are 4 skull imaging findings for achondroplasia?

A
  • -Macrocephaly
  • -Frontal bossing
  • -Foramen magnum stenosis
  • -Arnold-Chiari malformation
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5
Q

Autosomal dominant disorder resulting in the abnormal development of bone

A

Cleidocranial dysplasia

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6
Q

What are 5 prominent features of cleidocranial dysplasia affecting head

A
  • -Large head w/ delayed suture closure
  • -Wormian bones
  • -Hypertelorism
  • -Small face
  • -Dental dysplasia
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7
Q

What are 2 prominent features of cleidocranial dysplasia affecting the rest of the body?

A
  • -Hypoplasia or aplasia of the clavicles

- -narrow pelvis

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8
Q

What are 4 prominent complications of cleidocranial dysplasia?

A
  • -Dental anomalies
  • -Hearing loss
  • -Scoliosis
  • -Dislocations
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9
Q

What 3 joint locations are associated w/ cleidocranial dysplasia?

A
  • -Shoulder
  • -Radial head
  • -Hip
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10
Q

Familial disorder of connective tissue, primarily involving the eye, skeleton, and cardiovascular system

A

Marfan’s syndrome

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11
Q

What is the disproportionately long hands and feet appearance of those w/ Marfan’s syndrome?

A

arachnodactyly

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12
Q

What are 3 common skeletal findings w/ Marfan’s syndrome?

A
  • -scoliosis
  • -pectus deformities
  • -hypermobile joints
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13
Q

What cardio-vascular abnormalities

A
  • -Cystic medial necrosis of Aorta or Pulmonary arteries

- -Aortic and mitral insufficiency

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14
Q

What pathology is associated w/ abnormal collagen quality and quantity?

A

Osteogenesis imperfecta

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15
Q

What are the 4 major criteria for Osteogenesis Imperfecta?

A
  • -Osteoporosis w/ bone fragility
  • -Blue sclera
  • -Abnormal dentition
  • -Otosclerosis w/ hearing loss
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16
Q

What is the most common radiographic finding of Osteogenesis imperfecta?

A

generalized osteopenia

17
Q

What pathology goes by “Brittle bone disease”?

A

osteogenesis imperfecta

18
Q

What pathology goes by “Marble bone” disease?

A

osteopetrosis

19
Q

What patholgoy goes by “bone w/in a bone” disease?

A

osteopetrosis

20
Q

What is the prime defect of osteopetrosis?

A

FAILURE OF OSTEOCLASTOSIS

–leaving one w/ short, weak, and oddly shaped bones

21
Q

What are 4 radiographic findings of Osteopetrosis?

A
  • -Diffuse osteosclerosis
  • -Bone w/in bone
  • -Sandwhich vertebrae
  • -Sclerotic skull base