Horton hears a who
Magda Mendez, MD
Tympanogram
Tympanogram
A typical tympanogram plots compliance
 If the eardrum is under no positive or
negative pressure, it will have it's
maximum compliance at 0.
 On the other hand, if it is under negative or
positive pressure, the peak will move to
the left or right.

Tympanogram

On the test below, the left ear is flat. This
indicates that the left ear drum is
abnormally stiff
Prevalence
The prevalence of congenital deafness in
the United States is estimated to be
approximately 1:1,000 or 0.1%
 Approximately 3:1,000 well babies have
hearing loss of varying degrees
 Approximately 6:1,000 combined well and
at-risk babies have some degree of
hearing loss (HL).

Hearing test
Deafness
Acquired deafness associated with age or
noise exposure is more common than
genetic deafness by roughly two orders of
magnitude
 Autosomal recessive inheritance is the
most common form, accounting for more
than 75% of all congenital deafness

Types of HL

1.
2.
3.

Peripheral HL (outer, inner, middle ear or
auditory nerve)
Conductive
Sensorineural
Mixed
Central
CHL
Acquired causes of CHL
Foreign bodies in the ear canal
 Cerumen impaction
 Otitis externa,
 Otitis media with or without effusion

Acquired causes of CHL
Tympanic membrane perforation
 Cholesteatoma
 Ossicular discontinuity,
 Collapsing ear canals,
 Otosclerosis
 Tympanosclerosis

Congenital forms of CHL
1.
2.
3.
Aural stenosis
Atresia
Stapes fixation
SNHL

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A sensorineural HL (SNHL) affects the inner ear
(cochlea) or auditory nerve (eighth cranial
nerve).
Most SNHLs are sensory and restricted to the
cochlea and do not result from an abnormality to
the auditory nerve.
Routine audiometric testing does not
differentiate between a sensory loss and a
neural loss.
SNHL
SNHL
Electrophysiologic measures (brainstem
auditory evoked response [BAER] and
otoacoustic emissions [OAE]) must be
used to differentiate between sensory and
neural causes.
 SNHL cannot be identified on routine
physical otoscopic examination.

Mixed HL

Abnormalities are identified in the outer or
middle ear as well as the inner ear
Congenital Sensorineural Hearing
Loss Disorders
 Craniofacial and Skeletal Disorders
— Absence of tibia
— Cleidocranial dysostosis
— Diastrophic dwarfism
— Hand-hearing syndrome
— Klippel-Feil
— Saddle nose and myopia
— Split-hand and foot
Klippel-Feil
Klippel-Feil
Congenital fusion within the cervical spine
( cervical synostosis).
 Failure of segmentation occurs during
weeks 3 to 8 of gestation.
 Other systems are involved including
cardio-vascular (10%), genitourinary
(30%) and nervous systems

Klippel-Feil
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Hearing may be impaired (30%).
A classical clinical finding is Synkinesis (20%) or
mirror movements.
Scoliosis (60%) is common and may have a
significant kyphotic element.
Sprengel's deformity or congenital elevation of
the scapula may be seen in about 30%.
Integumentary and Pigmentary
Disorders

— Albinism with blue irides
— Congenital atopic dermatitis
— Ectodermal dysplasia
— Keratopachyderma
— Lentigines
Integumentary and Pigmentary
Disorders
— Partial albinism
— Piebaldness
— Pili torti
— Waardenburg syndrome
__Onychodystrophy
Albinism with blue irides
Clinical features:
 nystagmus;
 decreased visual acuity
 blue-gray to light brown irides
 white skin;
 white to golden blonde or red
hair
Inheritance: autosomal recessive
Ectodermal dysplasia

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(1) hair anomalies or
trichodysplasias
(2) dental
abnormalities
(3) nail abnormalities
or onychodysplasias
(4) eccrine gland
dysfunction or
dyshidrosis
Waardenburg syndrome

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Lateral displacement of the
medial canthi combined with
dystopia of the lacrimal
puncta and
blepharophimosis
Prominent broad nasal root
Hypertrichosis of the medial
part of the eyebrows
White forelock
Heterochromia iridis
Deafmutism
Nervous System Disorders

— Cerebral palsy
— Muscular dystrophy
— Myoclonic epilepsy
— Optococochleodentate degeneration
— Richards-Rundel
Endocrine and Metabolic Disorders

— Goiter
— Hyperprolinemia I
— Iminoglycinuria
— Pendred
Pendred syndrome

Pendred syndrome is a
genetic disorder that
causes early hearing loss
in children. It also can
affect the thyroid gland
and sometimes may
affect a person's balance.
The syndrome is named
after Vaughan Pendred,
the physician who first
described individuals with
the disorder
Congenital Conductive Hearing
Loss Disorders

Craniofacial and Skeletal Disorders
— Apert syndrome
— Fanconi anemia syndrome
— Goldenhar syndrome
— Madelung deformity
— Malformed, low-set ears
Congenital Conductive Hearing
Loss Disorders
 — Mohr syndrome
— Otopalatodigital
— Preauricular appendages
— Proximal symphalangism
— Thickened ears
— Treacher Collins
Apert syndrome

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Prematurely fused
cranial sutures
A retruded midface
Fused fingers
Fused toes
Fanconi anemia syndrome
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Skin
Body Upper limbs
Thumbs
Radii
Hands
Gonads
Head and face
Neck - Sprengel
abnormality, short, low
hairline, webbed
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Spine
Feet
Legs
Ears
Kidneys
Gastrointestinal system
Cardiopulmonary
system
Goldenhar syndrome

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a partially formed or
totally absent ear
(microtia)
the chin may be closer to
the affected ear
one corner of the mouth
may be higher than the
other
benign growths of the eye
a missing eye
Treacher Collins

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External ears that are
abnormal to almost
completely missing
Hearing loss
Very small jaw
(micrognathia)
Very large mouth
Defect in the lower eyelid
called a coloboma
Scalp hair that extends onto
cheeks
Cleft palate
Craniofacial and Skeletal Disorders
 Craniofacial and Skeletal Disorders
— Achondroplasia
— Crouzon syndrome
— Marfan syndrome
— Pierre Robin
— Pyle disease
Achondroplasia
Crouzon syndrome



Craniosynostosis most often of
the coronal and lambdoid, and
occasionally sagittal sutures
Underdeveloped midface with
receded cheekbones or
exophthalmos (bulging eyes)
Ocular Proptosis which is a
prominence of the eyes due to
very shallow orbits. The patient
may have crossed eyes and/or
wide-set eyes
Pierre Robin
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small lower jaw
(micrognathia)
a tongue which tends to
ball up at the back of the
mouth and fall back
towards the throat
(glossoptosis)
breathing problems
horsehoe-shaped cleft
palate may or may not be
present
Möbius syndrome

Mobius syndrome, a rare
genetic disorder
characterized by facial
paralysis, is caused by
the absence or
underdevelopment of the
6th and 7th cranial
nerves. These nerves
control eye movements
and facial expression
Alport syndrome
Alport syndrome is an inherited form of kidney
inflammation (nephritis). It's caused by a mutation in a
gene for a protein in connective tissue, called collagen.
Risk factors include:
 End-stage kidney disease in male relatives
 Family history of Alport syndrome
 Glomerulonephritis
 Hearing loss before age 30
 Nephritis

Hunter syndrome

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Hunter syndrome is
inherited as an Xlinked recessive
disease
lack of the enzyme
iduronate sulfatase
Hunter syndrome
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Coarse facial features
Large head (macrocephaly)
Stiffening of joints
Increased hair (hypertrichosis)
Deafness (progressive)
Enlargement of internal organs such as liver
and spleen
Abnormal retina (back of the eye)
Carpal tunnel syndrome
Hurler syndrome
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severe form may have
mental retardation,
short stature,
stiff joints,
speech and hearing
impairment,
heart disease
Autosomal recessive
Otosclerosis
Otosclerosis is a disease of the
bones of the inner ear.
 These are labeled the malleus,
incus and stapes (2-4) in figure 1,
and are also known in aggregate
as the "ossicles".
 The ossicles become knit together
into an immovable mass, and do
not transmit sound as well as
when they are more flexible.
Otosclerosis can also affect the other
ossicles (malleus and incus) and
the otic capsule -- the bone that
surrounds the inner ear.
