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Anomalies of the Auditory / Vestibular systems
Terms in this set (124)
what structures need to be assessed when a pinna deformity is identified?
EAC, ME, and surround structures
what pharyngeal arches does the pinna form from?
1 and 2
what are ear tags?
-appear as small wart-like nubs of tissue either anterior or posterior to the pinna
- consist of skin, fat, and cartilage
-include presence or absence of a stalk
where do ear tags occur?
occur along the migration line as part of the ascending pathway of the pinna to the anterior border of the sternocleidomastoid muscle
ear tags are a sign of what?
disturbed development in the first 2 months
- a small hole, dimple, or indentation adjacent to the pinna along the anterior margin of the ascending portion of the helix
- most are unilateral and right-sided
-occur sporadically or inherited in a variable or reduced penetrance AD pattern
what syndrome are ear pits mostly found as a feature of?
what is the most common bacterial infection of ear pits?
what are some environmental factors of microtia?
what are the 3 teratogens of microtia?
-retinoic acid - vitamin A
- thalidomide- immunomodulator
-mycophenolate mofetil - immunosuppressant
what is the failure in the development of the ear canal?
what most likely appears with microtia?
what type of atresia is the soft tissue plug at TM?
what type of atresia is bony plate at TM?
are males or females more affected by atresia?
how many times more likely is unilateral atresia than bilateral atresia?
what type of hearing loss can people with aural atresia have?
CHL (80-90%), SNHL (10-15%), MHL
approximately _______ of ears with CHL have at least moderate HL (60dB)
in only 5% of cases does one find atresia without concomitant _______/_______.
in people with aural atresia which ear is more frequently involved?
atretic portion of ear canal is more frequently ______ rather than ______
bony rather than membranous
small EAC, hypoplastic temporal bone and TM; a normal or small middle ear space and normal or mildly deformed ossicles
-absent EAC, atretic plate, a small middle ear space and fixed/malformed ossicles
- absent EAC, a severely contracted or absent middle ear space and absent or severely malformed ossicles
what other defects may aural atresias accompany?
cranium, face, skeleton, or mandible
how does the malformation of the ME occur?
failure in the proper development of the first and seconf pharyngeal arches
what is the malformation of the stapes footplate related to?
development of the otic capsule
the disturbance in the 1st pharyngeal groove may affect what?
E. tube, ME cavity or pneumatization of the mastoid air cells
are isolated abnormalities of the ossicles rare?
what are some abnormalities of the malleus?
fixation or malformation of the malleus head and body fusion of the incudomalleolar joint or absence of the malleus
can incus deficiencies exist in isolation or in conjunction with other ossicular problems and range from total absence to deformation of the lenticular process?
what are some stapes anomalies?
fusion of the head to the promontory, absence of the head and or crura, absence of the entire stapes or the presence of a columellar ossicle
congenital absence of what may also exist as.a unilateral or bilateral defect?
oval or round window
if atresia is bilateral
bone conduction HA (on a soft band) be fit immediately and until surgical correction can be considered
if atresia is unilateral
AAA guidelines assert that these children should be fit early as this is a unilateral HL and there is ample evidence to support language and learning delay with unilateral HL
what is one of the most challenging procedures for a reconstructive surgeon?
atresia surgical correction
what are some considerations for surgical correction?
-restore pinna for an improved aesthetic
-open ear canal for improved hearing
when does evaluation for surgical correction begin?
begins at 12 months and continues until optimal age for initiation of procedure (between 5-10)
what is the primary goal for atresiaplasty?
to restore hearing to near normal
are virtually all children candidates for microtia repair?
what does an atresiaplasty improve?
-communication, academic performance, social acceptance, and psychoemotional development
what are some options for microtia reconstruction?
-autologous reconstruction with autologous rib (costalchondral cartilage is harvested from the childs rib)
-composite reconstruction using alloplastic framework (porous polyethylene framework such as Medpor)
between what ages are kids usually scheduled for microtia repair?
6 and 10 years depending on the surgical technique
what is the brent technique ?
- harvest of rib cartilage at ~6 and placed under skin where ear will be
-stage 1 creates lobule, elevates pinna
-stage 3 creates the posterior sulcus and grafts the tragus
-stage 4 deepens the concha bowl and makes ear as cosmetically appealing as possible
-extensive long-term outcome data showing success
what is the less expensive option for microtia repair?
prosthetic reconstruction of ear
- mutations of the FGFR2 gene (10q26.13)
-new mutations of the syndrome significantly related to increased paternal age
what is the clinical presentation of crouzons syndrome?
-premature fusion of skull bones, craniosynostosis
-ocular proptosis (buldging eyes)
-outward rotation of the petrous pyramids secondary to cranial base dysplasia
-atypical course of the facial nerve
what is CHARGE an acronym for?
several of the features common in this syndrome
what follows an AD inheritance pattern; however most cases are the result of a new mutation (no family history)
CHARGE is linked to a mutation to what?
CHD7 is responsible for what?
provides instructions for making a protein that regulates gene expression via chromatin remodeling
what percentage of people with CHARGE syndrome have Coloboma?
what percentage of people with CHARGE syndrome have heart defects?
what percentage of people with CHARGE syndrome have Atresia Choanae?
what percentage of people with CHARGE syndrome have retardation of growth/development?
what percentage of people with CHARGE syndrome have genital/urinary abnormalities?
what percentage of people with CHARGE syndrome have ear abnormalities/hearing loss
- cleft or failure to close of the eyeball; may cause notching in the pupil and or abnormalities of the retina or optic nerve; vision may be affected
passage from the back of the nose to the throat are blocked or stenotic; surgical correction required
become small over time due to nutrition problems, heart defects or growth hormone deficiency; some have cognitive deficits also
Retardation of growth/development
small penis; undescended testes; girls and boys may require hormone therapy to achieve puberty
ear abnormalities/hearing loss
unusual external ears; little to no earlobe; soft texture; SNHL in 80-85 % ranging from mild to profound and often have comorbid CHL; hypoplastic cochlea (81%) and absent SCC; balance issues
what is the most common chromosome defect in humans?
what percent of fetuses with down syndrome survive to term?
there is a well established association between down syndrome and increased _________ _____.
down syndrome is an extra copy of what chromosome?
-sporadic and possibly multifunctional
-occurs in 1/3500 births
-expression varies within families
-predominantly unilateral malformation of craniofacial structures the develop from the first and second brachial arches
what are some environmental factors for Goldenhar's syndrome?
maternal diabetes, vasoactive drugs, smoking, twinning, reduced uterine blood supply
-disorder of type I collagen metabolism characterized by bone fragility
-more than 80 different mutations of the collagen genes
all pedigrees with hearing loss are linked to what gene on what chromosome?
what has a high percentage of infant deaths?
treacher-collins syndrome is autosomal dominant with a mutation to which genes?
TCOF1 and POLR1D
(60% result from new mutations)
treacher-collins syndrome is autosomal recessive with a mutation to which gene?
Mutations in the TCOF1 gene are responsible for what percentage of cases of treacher collins syndrome
the proteins produced by the genes involved in treacher-collins syndrome play a role in development of what?
bones and other tissues of the face via the production of the rRNA
insufficiency in the treacle protein
-autosomal dominance with variable expressivity
-penetrance is very high
-prevalence of 1/40,000 live births
what are the know causative genes of BOR?
EYA1 (8q13.3), SIX1, SIX5 (chromosome 19q13.32)
- (BOS) chromosome 1q31
clinical presentation of BOR syndrome
middle ear anomalies
structural anomalies of kidneys
what is the hearing loss of BOR syndrome?
what does the microtia look like for individuals with BOR syndrome?
cup-shaped, flap-like, flattened pinnae
does microtia in and of itself effect affect hearing?
reduced pinna effects
resonances will change
by how much does atresia reduce hearing?
40 dB HL to max conductive HL (60-70 dB HL)
what does malformed, fused, missing ossicles generally result in?
max conductive hearing loss
what indicates that you need to take a closer look?
ear pits, ear tags, etc
any malformation of, in and around the ear needs to be what?
what are some inner ear dysplasias?
michel, mondini, scheibe, alexander and common cavity malformatuons
where can inner ear dysplasias occur?
in isolation or with a syndrome
what are two types of malformations of membanous labyrinth?
complete membranous labyrinth dysplasia
limited membranous labyrinth dysplasia
what is an example of a complete membranous labyrinth dysplasia?
what are two limited membranous labyrinth dysplasias?
- cochleosaccular dysplasia (scheibe)
-cochlear basal turn dysplasia (alexander)
what is an example of complete labyrithinine aplasia?
what are some cochlear anomalies?
- cochlear hypoplasia
- incomplete partition (mondini)
- common cavity
what are these?
-semicircular canal dysplasia
- semicircular canal aplasia
what are examples of aqueductal anomalies?
- enlargement of the vestibular aqueduct
- enlargement of the cochlear aqueduct
what are these?
- narrow internal auditory canal
-wide internal auditory canal
internal auditory canal abnormalities
what is the incidence of incomplete partition (mondini)
what is the incidence of common cavity?
what is the incidence of cochlear hypoplasia?
what is the incidence of cochlear aplasia?
what is the incidence of complete labyrinthine aplasia?
what is the incidence of LVAS?
- complete membranous labyrinthine dysplasia
- first described in 1907
- extremely rare
-reported in association with jarvell and lange-nielsen and usher synfrome
describe Scheibe dysplasia
-most frequent histopathologic finding in congenital deafness (5-6 weeks gestation)
-associated with viral infections and is characteristic in congenital rubella syndrome
- noted In many syndromes with AR inheritance
- severe dysgenesis of the organ of Corti with only a few supporting cells remaining
- variable level of stria vascularis dysplasia
-malformation of the tectorial membrane (rolled up on itself)
-severe dysgenesis of the saccular macula demonstrated by an absence of hair cells and supporting cells
- normal architecture of the utricle and three cristae ampullaris
- collapse of the endolymphatic space within the cochlea and the saccule
-variable degree of loss of spiral ganglion cells
describe Alexander dysplasia
-cochlear basal turn dysplasia
- occurs with loss of organ of corti and adjacent spiral ganglion cells
-hearing loss generally in higher frequencies
- complete and most severe malformation of the membranous and bony labyrinths (complete absense of inner ear structures)
-developmental arrest before the formation of the otic vesicle (third week of gestation)
what two aplasias are confused with labyrinthine ossification?
Michel aplasia and cochlear aplasia
a sizable and dense otic capsule is present with what?
the otic capsule is entirely absent in what aplasia?
is a CI a treatment option of Michel aplasia?
no but ABI is possible
what is cochlear aplasia?
-failure of cochlear development in late third week of gestation
- vestibule and SCCs can be normal, dilated or hypoplastic
Describe the Mondini malformation.
- single turned cochlea (1 1/2 turns) and no interscalar septum (incomplete partition)
-unilaterally or bilateral (generally symmetric)
- mild to profound loss
- most common cochlear abnormality (week 7 of gestation)
- inherited in AD fashion
what is the most common cochlear abnormality and is inherited in a AD fashion?
A triad of profound SNHL, profound vestibular weakness, and recurrent meningitis is a strong suggestive sign of what?
SCC deformities occur in 20% of cases and vestibular aqueduct is often enlarged in what ?
mondini malformaiton is associated with what syndromes?
klippel-feil syndrome, pendred syndrome, DiGeorge syndrome and some trisomies
cochlea and vestibule are merges- round/oval structure remains
-occurs at the 4th week of gestation (otocyst stage)
- sometimes hair cells and supporting cells are visible but scattered peripherally around the walls of the space
- spiral ganglion cell population is usually sparse or absent
- cochlear implant is not a treatment option
what are two options for treatment of cochlear dysplasias?
amplification and cochlear implant
treatment of cochlear dysplasias using cochlear implants depend on what?
the surviving spiral ganglion cell population as well as the size of the IAC
congenitally narrowed canal can provide excessive what? causing what?
facial nerve stimulation and can contraindicate the cochlear implant
which SCC dysplasia is most common?
what percent of ears with malformed cochlea have lateral SCC dysplasia?
describe semicircular canal dysplasia
-half-disk or small bud shape and may contain rudimentary cristae
- utricle and saccule may be distended, collapsed or entirely absent
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