Syndromes

Question 1

Cogan Syndrome…symptoms

Answer 1

• Interstitial keratitis
• Episodic vertigo
• B/l fluctuating SNHL w/ tinnitus

Question 2

Cogan Syndrome…Dx?

Answer 2

Elevated ESR and CRP

Question 3

Cogan Syndrome…Rx?

Answer 3

High dose steroids (hearing and vestibular may resolve)

Question 4

Cogan Syndrome…cause?

Answer 4

Unknown, maybe autoimmune, hydrops like Meniere’s

Question 5

Usher Syndrome…MC what?

Answer 5

Syndromic AR SNHL

Deaf-Blind combo

Question 6

Usher Syndrome…symptoms

Answer 6

• B/l SNHL
• Vestibular dysfunction
• Adult-onset RP
• MR
• Cataracts
• Delayed walking

Question 7

Usher Syndrome…type 1

Answer 7

Profound SNHL, vestibular areflexia, adolescent RP

Question 8

Usher Syndrome…type 2

Answer 8

Mod-severe SNHL, legally blind by adult, NORMAL vestibular

Question 9

Usher Syndrome… type 3

Answer 9

Progressive SNHL, varied blindness, progressive vestibular

Question 10

Usher Syndrome…Dx?

Answer 10

Vestibular and ophthalmologic evaluations

Question 11

Pendred Syndrome…cause?

Answer 11

2nd MC syndromic AR SNHL

SLC26A4 mutation –> defective iodine metabolism and organification

Question 12

Pendred syndrome…symptoms

Answer 12

• Severe-profound SNHL
• Possible third-window effect
• Vestibular dysfunction (Mondini dysplasia)
• Euthyroid multinodular goiter 8-14

Question 13

Pendred syndrome…dx?

Answer 13

Perchlorate test (increased iodine release from thyroid)

Question 14

Pendred syndrome…rx?

Answer 14

Synthroid, avoid contact sports

Question 15

Alpert syndrome…cause?

Answer 15

FGFR2 mutation

Question 16

Alpert syndrome…symptoms?

Answer 16

• Stapes fixation
• Craniosynostosis
• Syndactyly
• Hypertelorism
• Proptosis
• Strabismus
• Choanal atresia
• Saddle nose
• High palate
• Cleft palate
• Type 3 malocclusion
• Trapezoid mouth
• Cervical fusion

Question 17

Goldenhar syndrome…other names?

Answer 17

• Oculoauriculovertebral syndrome

- Hemifacial Microsomia

Question 18

Goldenhar syndrome…grading?

Answer 18

• OMENS+

- Pruzansky mandible grading

Question 19

Pruzansky 1-3

Answer 19

1: minimal hypoplasia
2a: deformed TMJ w/ ant/med condyle BUT glenoid in ok position
2b: same, but no articulation w/ temporal bone
3: no ramus or glenoid

Question 20

Goldenhar syndrome…symptoms

Answer 20

Ear - preauricular appendages, microtia/anotia, aural atresia, ossicular malformation or absence, abnormal VII/stapedius/SCCs/oval window

Eye - epibulbar dermoid or coloboma or upper eyelid

Vertebral - fusion or absence of cervicals

Microsomia of hemiface (mandible, orbit, muscles, vertebrae)