Horton hears a who

1. Horton hears a who Magda Mendez, MD

2. Tympanogram

3. 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.

4. Tympanogram • On the test below, the left ear is flat. This indicates that the left ear drum is abnormally stiff

5. 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).

6. Hearing test

7. 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

8. Types of HL • Peripheral HL (outer, inner, middle ear or auditory nerve) • Conductive • Sensorineural • Mixed • Central .

9. CHL

10. Acquired causes of CHL • Foreign bodies in the ear canal • Cerumen impaction • Otitis externa, • Otitis media with or without effusion

11. Acquired causes of CHL • Tympanic membrane perforation • Cholesteatoma • Ossicular discontinuity, • Collapsing ear canals, • Otosclerosis • Tympanosclerosis

12. Congenital forms of CHL • Aural stenosis • Atresia • Stapes fixation

13. 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.

14. SNHL

15. 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.

16. Mixed HL • Abnormalities are identified in the outer or middle ear as well as the inner ear

17. 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

18. Klippel-Feil

19. 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

20. 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%.

21. Integumentary and Pigmentary Disorders • — Albinism with blue irides— Congenital atopic dermatitis— Ectodermal dysplasia— Keratopachyderma— Lentigines

22. Integumentary and Pigmentary Disorders — Partial albinism— Piebaldness— Pili torti— Waardenburg syndrome __Onychodystrophy

23. 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

24. Ectodermal dysplasia • (1) hair anomalies or trichodysplasias • (2) dental abnormalities • (3) nail abnormalities or onychodysplasias • (4) eccrine gland dysfunction or dyshidrosis

25. 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

26. Nervous System Disorders • — Cerebral palsy— Muscular dystrophy— Myoclonic epilepsy— Optococochleodentate degeneration— Richards-Rundel

27. Endocrine and Metabolic Disorders • — Goiter— Hyperprolinemia I— Iminoglycinuria— Pendred

28. 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

29. Congenital Conductive Hearing Loss Disorders • Craniofacial and Skeletal Disorders— Apert syndrome— Fanconi anemia syndrome — Goldenhar syndrome— Madelung deformity— Malformed, low-set ears

30. Congenital Conductive Hearing Loss Disorders • — Mohr syndrome— Otopalatodigital— Preauricular appendages— Proximal symphalangism— Thickened ears— Treacher Collins

31. Apert syndrome • Prematurely fused cranial sutures • A retruded midface • Fused fingers • Fused toes

32. 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 Fanconi anemia syndrome

33. 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

34. 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

35. Craniofacial and Skeletal Disorders • Craniofacial and Skeletal Disorders— Achondroplasia— Crouzon syndrome— Marfan syndrome— Pierre Robin— Pyle disease

36. Achondroplasia

37. 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

38. 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

39. 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

40. 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

41. Hunter syndrome • Hunter syndrome is inherited as an X-linked recessive disease • lack of the enzyme iduronate sulfatase

42. 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

43. Hurler syndrome • severe form may have mental retardation, • short stature, • stiff joints, • speech and hearing impairment, • heart disease • Autosomal recessive

44. 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.