Syndromes Flashcards
Cogan Syndrome…symptoms
- Interstitial keratitis
- Episodic vertigo
- B/l fluctuating SNHL w/ tinnitus
Cogan Syndrome…Dx?
Elevated ESR and CRP
Cogan Syndrome…Rx?
High dose steroids (hearing and vestibular may resolve)
Cogan Syndrome…cause?
Unknown, maybe autoimmune, hydrops like Meniere’s
Usher Syndrome…MC what?
Syndromic AR SNHL
Deaf-Blind combo
Usher Syndrome…symptoms
- B/l SNHL
- Vestibular dysfunction
- Adult-onset RP
- MR
- Cataracts
- Delayed walking
Usher Syndrome…type 1
Profound SNHL, vestibular areflexia, adolescent RP
Usher Syndrome…type 2
Mod-severe SNHL, legally blind by adult, NORMAL vestibular
Usher Syndrome… type 3
Progressive SNHL, varied blindness, progressive vestibular
Usher Syndrome…Dx?
Vestibular and ophthalmologic evaluations
Pendred Syndrome…cause?
2nd MC syndromic AR SNHL
SLC26A4 mutation –> defective iodine metabolism and organification
Pendred syndrome…symptoms
- Severe-profound SNHL
- Possible third-window effect
- Vestibular dysfunction (Mondini dysplasia)
- Euthyroid multinodular goiter 8-14
Pendred syndrome…dx?
Perchlorate test (increased iodine release from thyroid)
Pendred syndrome…rx?
Synthroid, avoid contact sports
Alpert syndrome…cause?
FGFR2 mutation
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
Goldenhar syndrome…other names?
- Oculoauriculovertebral syndrome
- Hemifacial Microsomia
Goldenhar syndrome…grading?
- OMENS+
- Pruzansky mandible grading
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
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)
