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Flashcards in Syndromes Deck (20)
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1

Cogan Syndrome...symptoms

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

2

Cogan Syndrome...Dx?

Elevated ESR and CRP

3

Cogan Syndrome...Rx?

High dose steroids (hearing and vestibular may resolve)

4

Cogan Syndrome...cause?

Unknown, maybe autoimmune, hydrops like Meniere's

5

Usher Syndrome...MC what?

Syndromic AR SNHL
Deaf-Blind combo

6

Usher Syndrome...symptoms

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

7

Usher Syndrome...type 1

Profound SNHL, vestibular areflexia, adolescent RP

8

Usher Syndrome...type 2

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

9

Usher Syndrome... type 3

Progressive SNHL, varied blindness, progressive vestibular

10

Usher Syndrome...Dx?

Vestibular and ophthalmologic evaluations

11

Pendred Syndrome...cause?

2nd MC syndromic AR SNHL

SLC26A4 mutation --> defective iodine metabolism and organification

12

Pendred syndrome...symptoms

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

13

Pendred syndrome...dx?

Perchlorate test (increased iodine release from thyroid)

14

Pendred syndrome...rx?

Synthroid, avoid contact sports

15

Alpert syndrome...cause?

FGFR2 mutation

16

Alpert syndrome...symptoms?

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

17

Goldenhar syndrome...other names?

- Oculoauriculovertebral syndrome
- Hemifacial Microsomia

18

Goldenhar syndrome...grading?

- OMENS+
- Pruzansky mandible grading

19

Pruzansky 1-3

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

20

Goldenhar syndrome...symptoms

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)