Pathologies Flashcards
Describe Usher Syndrome?
retinitis pigmentosa
vestibular dysfunction
Hearing Loss: SNHL
Describe Waardenberg syndrome?
white forelock
prominent root of nose
differently colored eyes
Hearing Loss: SNHL, congenital
Describe Treacher Collins syndrome?
facial anomalies
eyes slant downward laterally
receding mandible
mouth large/fish-like
outer and middle ear deformities
Hearing Loss: CHL, congenital
Describe Goldenhar syndrome?
facial asymmetry
microtia
atresia
preauricular tags
eye anomalies
oral defects
club foot
Hearing Loss: CHL
What type of hearing loss does ototoxicity cause?
Sensory
What type of hearing loss does presbycusis cause?
Sensory + Neural
What type of hearing loss does diabetes cause?
Sensory + Neural
What time of hearing loss does auditory neuropathy cause?
Neural
What type of hearing loss does Meniere’s disease cause?
Sensory
What time of hearing loss does otitis media with effusion (OME) cause?
Conductive
What time of hearing loss does GJB2 cause?
Sensory + Neural
What type of hearing loss does a TM perforation cause?
Conductive
What time of hearing loss does Barotrauma cause?
Conductive + Sensory
What type of hearing loss does LVAS cause?
(Large Vestibular Aqueduct Syndrome)
Sensory + Neural
What is coloboma and what syndrome is it associated with?
key-hole like pupil
CHARGE syndrome
Hearing Loss: Mixed, progressive
What is muscular hypotonia?
muscle weakness
What is heterochromatic irides and what pathology is it associated with?
different colored eyes
Waardenberg syndrome
What is dystopia canthorum and what pathology is it associated with?
wide set eyes
Treacher Collins syndrome
What is retinitis pigmentosa and what pathology is it associated with?
group of rare eye diseases that affect the retina
Usher syndrome
What is white median forelock and what pathology is it associated with?
white patch of hair
Waardenberg syndrome
What is a perilymphatic fistula?
tear or defect in the membranes that separate your middle and inner ear
Describe branchi-oto-renal syndrome
outer and middle ear deformities (ear pits), renal disorders, branchial fistulas
Hearing Loss: SNHL
Describe spina bifida
Incomplete closure of the neural tube; spinal cord is exposed
Describe midface hypoplasia
upper jaw, eye sockets, and cheekbones haven’t grown as much as the rest of the face
What is a cleft palate?
incomplete formation of the roof of the mouth
What are the congenital anomalies of the outer ear?
Microtia/Anotia - smaller or absent pinnas
What are the congenital anomalies of the inner ear?
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
Describe Alpert’s syndrome and what hearing loss is it associated with?
Fused fingers/toes
Spina bifida
Craniofacial abnormalities that affect the ears
Stapes fixation
Hearing Loss: CHL, congenital
What is CHARGE syndrome and what hearing loss is associated with it?
Coloboma
Heart defects
Atresia of chonae
Retarded development or
Growth
Ear anomalies/hearing loss
Describe Down syndrome and what hearing loss is associated with it?
Multi-system disorder, intellectual and developmental disorder, broad nasal bridge, short hands, recurrent otitis media
Hearing Loss: CHL
What is Fredreich’s ataxia and what hearing loss is associated with it?
Nystagmus, optic atrophy
Hearing Loss: SNHL
What is Pendred syndrome and what hearing loss is associated with it?
Thyroid enlargement (goiter),
Hearing Loss: SNHL, CHL progressive
What is Hunter syndrome and what hearing loss is associated with it?
Skeletal deformities, dwarfism, coarse facial features, affects only males
Hearing Loss: SNHL
