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ENT Written Board Prep > Syndromes > Flashcards

Syndromes Flashcards

1
Q

congenital cataracts, extramedullary hematopoesis (blueberry muffin rash), deafness, congenital heart disease

A

congenital rubella. profound deafness.

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2
Q

GJB2/connexin 26

A

non-syndromic AR SNHL

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3
Q

Cafe au lait spots, cataracts, bilateral acoustic neuroma

A

NF2; chromosome 22. Merlin protein. Autosomal dominant

NF1 also AD but not usually associated with hearing loss unless a fibroma encroaches on middle/inner ear.

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4
Q

Cleft palate, micrognathia, retinal detachments, cataracts, marfanoid habitus

A

Stickler. AD. COL2A1 on car 12. SNHL or mixed.

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5
Q

DNFA mutations

A

non-syndromic AD SNHL

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6
Q

Ear pits or tags and renal issues (wide range)

A

branchio-oto-renal; EYA1. AD.

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7
Q

Thyroid goiter, EVA or modini aplasia

A

Pendred. AR. PDS/Pendrin. SNHL. Profound SNHL.

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8
Q

Blue sclerae, joint hyperelasticity

A

Osteogenesis imperfecta. COLIA 1/2.

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9
Q

early onset is severe and bilateral. late onset is Meniere’s like syndrome with bouts of vertigo/hydrops

A

otic syphilis

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10
Q

Stapes fixation with perilymphatic gusher and mixed hearing loss

A

non-syndromic X-linked hearing loss

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11
Q

Cardiac arrhythmia and hearing loss

A

Jervell lange nielsen. AR. KVLQT1; need to get EKG. Potassium channels affected. Schiebe aplasia. PAS positive nodules in cochlea.

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12
Q

Hemifacial microsomia, otomandibular dysostosis, epibulbar lipodermoids, coloboma, vertebral anomalies

A

Goldenhaar syndrome. Multifactorial inheritance.

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13
Q

Autosomal dominant conditions

A

Waardenberg, Treacher collins. Osteogenesis imperfecta. Otosclerosis. Stickler. Branchio-oto-renal. NF1 and NF2. Crouzon. Apert’s.

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14
Q

Autosomal recessive conditions

A

Pendred. Usher. Jervell lange nielsen.

Goldenhaar*.

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15
Q

TCOF1, treacle.

A

Treacher Collins

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16
Q

PAX3

A

Usher. AR

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17
Q

KVLQT1

A

Jervell lange nielsen. AR. KVLQT1; need to get EKG. Potassium channels affected. Schiebe aplasia. PAS positive nodules in cochlea.

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18
Q

Upper lid coloboma vs lower lid coloboma?

A

Upper = Goldenhaar. Lower = Treacher collins (AD)

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19
Q

The four types of Waardenburg?

A

Type 1 - white forelock, heterochromia, vitiligo, etc + dystopia canthorum. Type 2 = type 1 minus dystopia canthorum. Type 3 = type 1 + mental retardation, microcephaly. Type 4 = type 2 + hirschsprung. AD.

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20
Q

COL4A5 vs COL2A1

A

Alport’s (COL4A5; XLR), Stickler (COL2A1; AD)

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21
Q

Most common AD vs AR cause of syndromic congenital hearing loss?

A

AD =Waardenberg (also most common AD overall). AR = Usher

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22
Q

The 3 types of Usher?

A

Type 1 = poor hearing, no vestibular function. Type 2 = moderate hearing loss, normal vestibular function. Type 3 = progressive hearing loss, variable vestibular function. AR.

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23
Q

Renal agenesis/dysplasia vs asymptomatic hematuria in infancy eventually progressing to renal failure?

A

Renal agenesis/dysplasia = branchio-oto-renal (AD; EYA1)

Asymptomatic hematuria progressing = Alport’s (XLR; COL4A5)

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24
Q

Interstitial keratitis (2 possible answers) vs retinitis pigmentosa

A

Cogan’s / otic syphilis vs Usher’s

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25
The four types of cochlear aplasia?
Michel - complete agenesis of the cochlea Mondini - only a basal turn Schiebe (pars inferior dysplasia) - cochleosaccular dysplasia Alexander aplasia - cochlear duct abnormal; bony anatomy normal
26
Name 2-3 hearing loss syndromes/conditions with Mondini Aplasia
Pendred, Waardenberg, Treacher Collins, CMV, CHARGE. Also Wildervanck (shrug)
27
Name 2-3 hearing loss syndromes/conditions with Schiebe aplasia
Jervell lange Nielsen, Usher, Waardenburg, rubella. Also Refsum (shrug)
28
Which cochlear aplasias benefit from hearing rehabilitation with conventional amplification?
Mondini, Schiebe, Alexander
29
WANT BCS
Waardenburg / Apert (FGFR) / Neurofibromatosis / Branchio-Oto-Renal (EYA1) / Crouzon / Stickler
30
PUG JAR
Pendred / Usher / Goldenhaar* / Jervel Lange Nielsen /
31
Apert syndrome
FGFR mutation; polysyndactyly. CHL due to stapes fixation. AD.
32
Crouzon
AD. Premature closure of the cranial suture lines.
33
Fused cervical vertebrae, spina bifida, and SNHL
Klippel Feil / Wildervanck. AR or AD
34
Sclerotic/brittle bone, fluctuating facial nerve paralysis, CHL/mixed hearing loss
Osteopetrosis (Albers-Schoon). AR.
35
Paget's disease
Osteitis deformans. AD. SNHL mainly, may be mixed. Hat doesn't fit.
36
Glossoptosis, micrognathia, cleft palate.
Pierre Robin. AD or intrauterine insult. Mixed HL.
37
Mechanism of hearing loss in osteogenesis imperfecta?
CHL due to stapes fixation
38
Hearing loss condition associated with goiter other than Pendred?
Congenital cretinism. Pendred has normal petrous pyramid; congenital cretinism does not.
39
Syndromes with CHL 2/2 stapes fixation?
Osteogenesis imperfecta, apert's. Also pyle.
40
abnormal mucopolysaccharide deposition, gargolye cells, cerebral storage of gangliosides, Adler bodies in mucosa on histopath
Hurler's syndrome. AR.
41
Facial diplegia. Ophthalmoplegia. Paralysis of tongue. Bilateral mixed hearing loss.
Mobius syndrome.
42
Hearing loss with SNHL 2/2 atrophy of Organ of Corti?
Pendred, Usher
43
polyostotic fibrous dysplasia, cafe au lait spots, precocious puberty
McCune-Albright
44
unilateral facial sweating after parotidectomy
Frey syndrome
45
familial jaw cysts and multiple basal cell epitheliomas
Basal cell nevoid syndrome
46
residual facial paralysis with lacrimation while eating
Bogorad / crocodile tear syndrome (aberrant innervation of lacrimal gland instead of salivary gland)
47
conductive or mixed hearing loss, ear pits, renal dysplasia
Branchio-oto-renal. Autosomal dominant. EYA1
48
orbital pain, bilateral proptosis, periorbital edema + photophobia, ethmoid sinusitis
Cavernous sinus thrombosis
49
nonsyphilis interstitial keratitis, episodic vertigo, progressive SNHL
Cogan’s
50
hamartomas + breast/thyroid/uterine/colon cancer
Cowden’s
51
hypopigmentation, respiratory infections, neuropathies, coagulopathies
Chediak-Higashi
52
craniosynotosis, parrot beak nose, CHL
Crouzon. FGFR2. Autosomal dominant
53
ossification of the stylohyoidligament causing throat pain, recurrent foreign body sensation
Eagle syndrome
54
abnormal extension of arachnoid diverticulum filled with CSF and displacing/compressing the pituitary gland
empty sella syndrome
55
osteomas of the skull/mandible/maxilla + colonic polyps (VS jaw cysts + basal cell cancers VS hamartomas + thyroid cancer)
Gardner (vs familial nevoid BCC vs Cowden)
56
nasopharyngeal torticollis caused by subluxation of the atlanto-axial joint
Griselle
57
IJV/sigmoid sinus thrombosis 2/2 oropharyngeal infection
Lemierre
58
imbalance or rocking sensation long after termination of prolonged exposure to motion
Mal de debarquement
59
Name the MEN I/IIA/IIB disorder triads
MEN I - pituitary, parathyroid hyperplasia, pancreatic tumors; MENIIA - parathyroid adenoma, MTC, pheo; MEN IIB - MTC, pheo, marfanoid habitus, neuromas
60
external and internal ophthalmoplegia, nonreactive pupil, ptosis, periorbital edema
cavernous sinus thrombosis syndrome
61
punctate hemangiomas throughout mucosal tract of the body
HHT / osler-weber-rendu
62
glossoptosis, micrognathia, cleft palate (name leading etiological explanation)
Pierre Robin
63
microcytic anema, tongue fissures, esophageal webs
Plummer vinson
64
ASA allergy, nasal polyps, asthma
Samter’s triad
65
bilateral parotid enlargement, dry mucous membranes
Sjogren’s
66
port wine stain, angiomas of the oral cavity/nasal mucosa
Sturge Weber
67
intermittent vertigo, difference in blood pressure between in the two arms
Subclavian steal
68
Tullio’s phenomenon, oscillopsia, autophony, CHL
SSCD
69
Paralysis of CN 3/4/6, V1, paralysis of upper eyelid without loss of pupillary reactivity (vs with loss of pupillary reactivity)?
Superior orbital fissure (involvement of CN2 -> orbital apex syndrome)
70
Facial twitch elicited from tapping the ipsilateral cheek. What does it indicate/suggest?
Chvostek’s sign. Hypocalcemia
71
Charcot triad (nystagmus, scanning speech, intention tremor), bilateral internuclear ophthalmoplegia
Multiple sclerosis

ENT Written Board Prep (13 decks)

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