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

Peripheral HL (outer, inner, middle ear or auditory nerve)

1. Conductive

2. Sensorineural

3. 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. Aural stenosis

2. Atresia

3. Stapes fixation

SNHL

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

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

(1) hair anomalies or trichodysplasias

(2) dental abnormalities

(3) nail abnormalities or onychodysplasias

(4) eccrine gland dysfunction or dyshidrosis

Waardenburg syndrome

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

Prematurely fused cranial sutures

A retruded midface Fused fingers Fused toes

Fanconi anemia syndrome

Skin Body Upper limbs Thumbs Radii Hands Gonads Head and face Neck - Sprengel

abnormality, short, low hairline, webbed

Spine Feet Legs Ears Kidneys Gastrointestinal system Cardiopulmonary

system

Goldenhar syndrome

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

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

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

Hunter syndrome is inherited as an X-linked recessive disease

lack of the enzyme iduronate sulfatase

Hunter syndrome

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

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.