Outer and Middle Ear Disorders

What are some external signs of a hearing loss?

-Unilateral or bilateral auricular pits

-thickened earlobes

-incudostapedial abnormalities

-microtia, anotia, stenosis

What is stenosis?

extreme narrowing of external auditory canal

genotype of brachio-oto-renal syndrome

-autosomal dominant

-variable expressivity

-mapped to a gene on chromosome 8

phenotype of brachio-oto-renal syndrome

-hearing loss in 90%

-conductive, mixed or SNHL

-can be progressive and range in severity

-pre-auricular pits in 80%

-brachial cysts or fistulas in 60%

-kidney abnormalities in 25%

What is the CHARGE association?

C = coloboma (hole in eye)

H = heart defects

A = atresia of choanae

R = retardation of growth and development

G = genital hypoplasia

E = ear abnormalities

teacher collins syndrome genotype

autosomal dominant or sporadic new mutation

teacher collins syndrome phenotype

-downward sloping palpebral fissures

-depressed cheekbones

-deformed pinnae and receding chin

-colomba of lower eyelids

-often have cleft or incomplete soft palate

-often have conductive or mixed loss

-malformations of ossicles

what type of hearing loss is most common for teacher collins syndrome?

congenital bilateral conductive

apert syndrome genotype

autosomal dominant or sporadic new mutation

apert syndrome phenotype

-developmental delay

-ocular hypertelorism

-flat facial profile

-syndactyly of hands and/or feet

-conductive hearing loss

what is ocular hypertelorism?

excess spacing between eyes

stickler syndrome genotype

autosomal dominant

stickler syndrome phenotype

-midfacial flattening

-long,thin extremities

-sometimes cleft palate

-bony enlargement of ankles, knees, joints, during first few years of life (arthritis)

-progressive myopia

-low percentage of sensory/neural or mixed HL (can be progressive)

Non-genetic external ear disorders

collapsed ear canals, cerumen and foreign bodies, bony growths, otitis externa

Non-genetic middle ear disorders

otitis media, bullous myringitis, cholestotoma, mastoiditis, tympanosclerosis

Describe bullous myringitis

a blister develops between the layers of the TM usually with upper respiratory infection but rarely results in hearing loss

Describe a cholesteotoma

growth of skin from external ear that invades the middle ear through a retraction pocket

-bacterial, destroys tissue structures, foul-smelling drainage, conductive hearing loss, aural fullness, surgery and regular monitoring

describe mastoiditis

acute: treated with antibiotics, inflammation of mucosa

chronic: may require surgery, affects bone structure

what is tympanosclerosis

calcified tissue on TM, related to chronic otitis media, can cause conductive hearing loss

Describe an audiogram with a collapsed ear canal

High frequency conductive hearing loss

What is vernix caseosa?

A white cheese like substance covering the fetus and newborn that may cause them to fail a hearing screening