Disease/Condition by traits/symptoms Flashcards

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1
Q

Diagnosis?

  1. short stature
  2. delayed closure of cranial fontanels and sutures
  3. Wormian bones
  4. frontal bossing
  5. late erupting teeth
  6. rudimentary or absent clavicle
A

Cleidocranial Dysplasia

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2
Q

Diagnosis?

Progressive loss of alpha-motor neurons in anterior horn of spinal cord

A

SMA

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3
Q

Diagnosis?

  1. ligamentous hyperlaxity
  2. abnormal facial features
  3. multiple joint dislocations
A

Larsen’s Syndrome

(aka God’s joke on humans)

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4
Q

Who am I?

Mutation on 17q21

AD or DeNovo

Increased RAS activity

AL tibial bowing

Radial Bowing

A

NF1

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5
Q

Diagnosis?

A short Finlander.

A

Diastrophic Dysplasia

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6
Q

Diagnosis?

  • facial features
  • frontal bossing
  • button noses
  • small nasal bridges
  • extremities
  • trident hands (inability to approximate extended middle and ring finger)
  • bowed legs
  • radial head subluxation
  • muscular hypotonia
A

Achondroplasia

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7
Q

Diagnosis?

Contractures: adduction and internal rotation of the shoulders, hip flexion and subluxation/dislocation, knee rigidity, and club feet.

Not progressive

A

Arthrogryposis

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8
Q

Who am I?

  • rhizomelic limb shortening
  • normal intelligence
  • frontal bossing
  • spinal stenosis
A

Achondroplasia

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9
Q

Diagnosis?

codfish vertebrae (compression fx)

basilar invagination

A

OI

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10
Q

Diagnosis?

  1. ataxia
  2. areflexia
  3. positive plantar response
A

Freidrichs Ataxia

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11
Q

Diagnosis?

Flat face

Short

AAI

Genu Valgum

A

SED

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12
Q

Diagnosis?

  1. proportionate dwarfism
  2. increased rate of carpal tunnel syndrome
  3. C1-C2 instability
  4. delayed hip dysplasia
  5. abnormal epiphyses
  6. bullet-shaped phalanges
  7. genu valgum
A

Mucopolysaccharidosis

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