Pathologies

Question 1

Describe Usher Syndrome?

Answer 1

retinitis pigmentosa
vestibular dysfunction

Hearing Loss: SNHL

Question 2

Describe Waardenberg syndrome?

Answer 2

white forelock
prominent root of nose
differently colored eyes

Hearing Loss: SNHL, congenital

Question 3

Describe Treacher Collins syndrome?

Answer 3

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

Hearing Loss: CHL, congenital

Question 4

Describe Goldenhar syndrome?

Answer 4

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

Hearing Loss: CHL

Question 5

What type of hearing loss does ototoxicity cause?

Answer 5

Sensory

Question 6

What type of hearing loss does presbycusis cause?

Answer 6

Sensory + Neural

Question 7

What type of hearing loss does diabetes cause?

Answer 7

Sensory + Neural

Question 8

What time of hearing loss does auditory neuropathy cause?

Answer 8

Neural

Question 9

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

Answer 9

Sensory

Question 10

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

Answer 10

Conductive

Question 11

What time of hearing loss does GJB2 cause?

Answer 11

Sensory + Neural

Question 12

What type of hearing loss does a TM perforation cause?

Answer 12

Conductive

Question 13

What time of hearing loss does Barotrauma cause?

Answer 13

Conductive + Sensory

Question 14

What type of hearing loss does LVAS cause?

(Large Vestibular Aqueduct Syndrome)

Answer 14

Sensory + Neural

Question 15

What is coloboma and what syndrome is it associated with?

Answer 15

key-hole like pupil
CHARGE syndrome

Hearing Loss: Mixed, progressive

Question 16

What is muscular hypotonia?

Answer 16

muscle weakness

Question 17

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

Answer 17

different colored eyes

Waardenberg syndrome

Question 18

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

Answer 18

wide set eyes

Treacher Collins syndrome

Question 19

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

Answer 19

group of rare eye diseases that affect the retina

Usher syndrome

Question 20

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

Answer 20

white patch of hair

Waardenberg syndrome

Question 21

What is a perilymphatic fistula?

Answer 21

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

Question 22

Describe branchi-oto-renal syndrome

Answer 22

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

Hearing Loss: SNHL

Question 23

Describe spina bifida

Answer 23

Incomplete closure of the neural tube; spinal cord is exposed

Question 24

Describe midface hypoplasia

Answer 24

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

Question 25

What is a cleft palate?

Answer 25

incomplete formation of the roof of the mouth

Question 26

What are the congenital anomalies of the outer ear?

Answer 26

Microtia/Anotia - smaller or absent pinnas

Question 27

What are the congenital anomalies of the inner ear?

Answer 27

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

Question 28

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

Answer 28

Fused fingers/toes Spina bifida Craniofacial abnormalities that affect the ears Stapes fixation Hearing Loss: CHL, congenital

Question 29

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

Answer 29

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

Question 30

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

Answer 30

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

Question 31

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

Answer 31

Nystagmus, optic atrophy Hearing Loss: SNHL

Question 32

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

Answer 32

Thyroid enlargement (goiter), Hearing Loss: SNHL, CHL progressive

Question 33

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

Answer 33

Skeletal deformities, dwarfism, coarse facial features, affects only males Hearing Loss: SNHL