Pathologies Flashcards

1
Q

Describe Usher Syndrome?

A

retinitis pigmentosa
vestibular dysfunction

Hearing Loss: SNHL

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2
Q

Describe Waardenberg syndrome?

A

white forelock
prominent root of nose
differently colored eyes

Hearing Loss: SNHL, congenital

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3
Q

Describe Treacher Collins syndrome?

A

facial anomalies
eyes slant downward laterally
receding mandible
mouth large/fish-like
outer and middle ear deformities

Hearing Loss: CHL, congenital

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4
Q

Describe Goldenhar syndrome?

A

facial asymmetry
microtia
atresia
preauricular tags
eye anomalies
oral defects
club foot

Hearing Loss: CHL

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5
Q

What type of hearing loss does ototoxicity cause?

A

Sensory

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6
Q

What type of hearing loss does presbycusis cause?

A

Sensory + Neural

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7
Q

What type of hearing loss does diabetes cause?

A

Sensory + Neural

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8
Q

What time of hearing loss does auditory neuropathy cause?

A

Neural

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9
Q

What type of hearing loss does Meniere’s disease cause?

A

Sensory

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10
Q

What time of hearing loss does otitis media with effusion (OME) cause?

A

Conductive

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11
Q

What time of hearing loss does GJB2 cause?

A

Sensory + Neural

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12
Q

What type of hearing loss does a TM perforation cause?

A

Conductive

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13
Q

What time of hearing loss does Barotrauma cause?

A

Conductive + Sensory

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14
Q

What type of hearing loss does LVAS cause?

(Large Vestibular Aqueduct Syndrome)

A

Sensory + Neural

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15
Q

What is coloboma and what syndrome is it associated with?

A

key-hole like pupil
CHARGE syndrome

Hearing Loss: Mixed, progressive

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16
Q

What is muscular hypotonia?

A

muscle weakness

17
Q

What is heterochromatic irides and what pathology is it associated with?

A

different colored eyes

Waardenberg syndrome

18
Q

What is dystopia canthorum and what pathology is it associated with?

A

wide set eyes

Treacher Collins syndrome

19
Q

What is retinitis pigmentosa and what pathology is it associated with?

A

group of rare eye diseases that affect the retina

Usher syndrome

20
Q

What is white median forelock and what pathology is it associated with?

A

white patch of hair

Waardenberg syndrome

21
Q

What is a perilymphatic fistula?

A

tear or defect in the membranes that separate your middle and inner ear

22
Q

Describe branchi-oto-renal syndrome

A

outer and middle ear deformities (ear pits), renal disorders, branchial fistulas

Hearing Loss: SNHL

23
Q

Describe spina bifida

A

Incomplete closure of the neural tube; spinal cord is exposed

24
Q

Describe midface hypoplasia

A

upper jaw, eye sockets, and cheekbones haven’t grown as much as the rest of the face

25
Q

What is a cleft palate?

A

incomplete formation of the roof of the mouth

26
Q

What are the congenital anomalies of the outer ear?

A

Microtia/Anotia - smaller or absent pinnas

27
Q

What are the congenital anomalies of the inner ear?

A

Michel’s aplasia - complete absence of inner ear structures

Mondini’s aplasia - incomplete formation of the cochlea (1.5 turns vice 2)

Scheibe’s aplasia - most common; abnormality of membranous ducts and cochclea/saccule

28
Q

Describe Alpert’s syndrome and what hearing loss is it associated with?

A

Fused fingers/toes
Spina bifida
Craniofacial abnormalities that affect the ears
Stapes fixation

Hearing Loss: CHL, congenital

29
Q

What is CHARGE syndrome and what hearing loss is associated with it?

A

Coloboma
Heart defects
Atresia of chonae
Retarded development or
Growth
Ear anomalies/hearing loss

30
Q

Describe Down syndrome and what hearing loss is associated with it?

A

Multi-system disorder, intellectual and developmental disorder, broad nasal bridge, short hands, recurrent otitis media

Hearing Loss: CHL

31
Q

What is Fredreich’s ataxia and what hearing loss is associated with it?

A

Nystagmus, optic atrophy

Hearing Loss: SNHL

32
Q

What is Pendred syndrome and what hearing loss is associated with it?

A

Thyroid enlargement (goiter),

Hearing Loss: SNHL, CHL progressive

33
Q

What is Hunter syndrome and what hearing loss is associated with it?

A

Skeletal deformities, dwarfism, coarse facial features, affects only males

Hearing Loss: SNHL