Congenital syndromes Flashcards

1
Q

Goldenhar

A

AKA: oculo-auricular-vertebral syndrome

UL Colobomas
Limbal dermoid (usually IT)
Preauricular skin tag
Heart disease
CNS abnormalities
Skeletal abnormalities (vertebral, rib)
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2
Q

Treacher-Collins

A

Lower eyelid coloboma

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3
Q

Waardenburg Syndrome

A

Abnormality of tyrosine metabolism

Hearing loss
Dystopia canthorum
Heterochromia
Forelock of white hair

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4
Q

Microphthalmos

A

Trisomy 21
Dwarfism
Intellectual disability

  • small, DISORGANIZED eye
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5
Q

Aniridia

A

Sporadic v AD mut’n @ PAX6
15% ass’d with WAGR

Wilms tumors
GU abnormalities
Retardation

Aniridia usually w small stalk of iris that ultimately causes angle closure

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6
Q

Mobius Syndrome

A
CN VI, VII palsy 
Masked facies (2/2 CN VII palsy)

Systemic:

  • Chest wall
  • Clubbed feet
  • Tongue deformation
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7
Q

Lisch nodules

A

NF1

Iris nodules

Other NF1 criteria = 2 or more of:

  • first deg relative with NF1
  • 6 or more cafe au lait spots
  • 2 or more neurofibromas it’s 1 or more plexiform neurofibromas
  • 2 or more lisch nodules
  • distinctive bone lesions
  • optic nerve glioma (e.g. pilocytic astrocytoma)
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8
Q

Pilocytic astrocytoma

A

NF1

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