Achondroplasia
Turner’s syndrome
Sensorineural hearing loss (SNHL),
SNHL, low hairline, webbed neck
– loss of pigmentation
– café-au-lait spots
– depigmented patches
Albinism
Neurofibromatosis type 2
Vitiligo
SNHL
Bilateral acoustic neuromas/SNHL
SNHL
– heterochromia
– hazy cornea
– opacification of lens
Waardenburg’s syndrome
Congenital syphilis
Congenital rubella
SNHL, white forelock of hair
SNHL
SNHL
What abnormalities may be noted on examination of the pinna?
Prominent ears/bat ears are usually due to deficiency of the antihelical folds and deep conchal bowls.
A lop ear is a deformity where the superior edge of the helix is folded down.
Preauricular sinuses usually occur at the root of the helix and are connected to the perichondrium of the auricular cartilage. They occur superior and lateral to the facial nerve. Where there is a sinus in an unusual position, look for another opening around the angle of the mandible, as this may represent a collaural fistula from 1st branchial groove duplication.
Accessory auricles are small tags containing cartilage anterior to the ear.
Hypoplasia of the external ear is called microtia. It may be an isolated finding or associated with craniofacial malformation.
What is the technique for otoscopy?
Ask the patient to turn his or her head contralaterally.
The examination of the right ear is performed with the right hand, and the left ear with the left hand.
Point the base of the otoscope 30–45° above the horizontal.
Pull the ear canal posteriorly and superiorly in adults and posteriorly in children to straighten the auditory canal.
Insert the otoscope under direct vision and inspect the canal and all four quadrants of the tympanic membrane (TM).
A pneumatic otoscope has a squeezable air reservoir which can be used to pump air and generate positive pressure.
Lack of movement of an intact TM suggests middle ear fluid.
If the eyes deviate to the contralateral ear and there is ipsilateral nystagmus this is called a positive fistula test and implies a perilymphatic fistula or labyrinthine fistula.
How can you tell if a patient has a mastoid cavity?
This is a cavity in the mastoid bone which has been drilled to remove cholesteatoma or treat infection. There will be an associated postaural or endaural scar. The cavity will only be visible if the posterior canal wall has been removed at the time of surgery. The otoscope should be angled posteriorly, and comment should be made on the size and cleanliness of the cavity as well as the height of the facial ridge.
What signs should be noted on examination of the tympanic membrane?
Examine the whole TM – do not forget to examine the attic. Look for the following:
Changes in colour
Segmental changes:
white plaques on the TM: tympanosclerosis (scarring)
white pearly lesion behind TM: cholesteatoma
red/purple lesions of the TM/behind the TM: glomus tumours; glomus jugulare tumours can have a ‘rising sun’ appearance
hypervascularity of promontory (Schwartze’s/flamingo pink sign): otosclerosis
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