Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

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.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

GJB2/connexin 26

A

non-syndromic AR SNHL

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

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

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

DNFA mutations

A

non-syndromic AD SNHL

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Ear pits or tags and renal issues (wide range)

A

branchio-oto-renal; EYA1. AD.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Thyroid goiter, EVA or modini aplasia

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Blue sclerae, joint hyperelasticity

A

Osteogenesis imperfecta. COLIA 1/2.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

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

A

otic syphilis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Stapes fixation with perilymphatic gusher and mixed hearing loss

A

non-syndromic X-linked hearing loss

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

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

A

Goldenhaar syndrome. Multifactorial inheritance.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Autosomal dominant conditions

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Autosomal recessive conditions

A

Pendred. Usher. Jervell lange nielsen.

Goldenhaar*.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

TCOF1, treacle.

A

Treacher Collins

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

PAX3

A

Usher. AR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

KVLQT1

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Upper lid coloboma vs lower lid coloboma?

A

Upper = Goldenhaar. Lower = Treacher collins (AD)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

COL4A5 vs COL2A1

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

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

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Interstitial keratitis (2 possible answers) vs retinitis pigmentosa

A

Cogan’s / otic syphilis vs Usher’s

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

The four types of cochlear aplasia?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Name 2-3 hearing loss syndromes/conditions with Mondini Aplasia

A

Pendred, Waardenberg, Treacher Collins, CMV, CHARGE. Also Wildervanck (shrug)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Name 2-3 hearing loss syndromes/conditions with Schiebe aplasia

A

Jervell lange Nielsen, Usher, Waardenburg, rubella. Also Refsum (shrug)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Which cochlear aplasias benefit from hearing rehabilitation with conventional amplification?

A

Mondini, Schiebe, Alexander

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

WANT BCS

A

Waardenburg / Apert (FGFR) / Neurofibromatosis / Branchio-Oto-Renal (EYA1) / Crouzon / Stickler

30
Q

PUG JAR

A

Pendred / Usher / Goldenhaar* / Jervel Lange Nielsen /

31
Q

Apert syndrome

A

FGFR mutation; polysyndactyly. CHL due to stapes fixation. AD.

32
Q

Crouzon

A

AD. Premature closure of the cranial suture lines.

33
Q

Fused cervical vertebrae, spina bifida, and SNHL

A

Klippel Feil / Wildervanck. AR or AD

34
Q

Sclerotic/brittle bone, fluctuating facial nerve paralysis, CHL/mixed hearing loss

A

Osteopetrosis (Albers-Schoon). AR.

35
Q

Paget’s disease

A

Osteitis deformans. AD. SNHL mainly, may be mixed. Hat doesn’t fit.

36
Q

Glossoptosis, micrognathia, cleft palate.

A

Pierre Robin. AD or intrauterine insult. Mixed HL.

37
Q

Mechanism of hearing loss in osteogenesis imperfecta?

A

CHL due to stapes fixation

38
Q

Hearing loss condition associated with goiter other than Pendred?

A

Congenital cretinism. Pendred has normal petrous pyramid; congenital cretinism does not.

39
Q

Syndromes with CHL 2/2 stapes fixation?

A

Osteogenesis imperfecta, apert’s. Also pyle.

40
Q

abnormal mucopolysaccharide deposition, gargolye cells, cerebral storage of gangliosides, Adler bodies in mucosa on histopath

A

Hurler’s syndrome. AR.

41
Q

Facial diplegia. Ophthalmoplegia. Paralysis of tongue. Bilateral mixed hearing loss.

A

Mobius syndrome.

42
Q

Hearing loss with SNHL 2/2 atrophy of Organ of Corti?

A

Pendred, Usher

43
Q

polyostotic fibrous dysplasia, cafe au lait spots, precocious puberty

A

McCune-Albright

44
Q

unilateral facial sweating after parotidectomy

A

Frey syndrome

45
Q

familial jaw cysts and multiple basal cell epitheliomas

A

Basal cell nevoid syndrome

46
Q

residual facial paralysis with lacrimation while eating

A

Bogorad / crocodile tear syndrome (aberrant innervation of lacrimal gland instead of salivary gland)

47
Q

conductive or mixed hearing loss, ear pits, renal dysplasia

A

Branchio-oto-renal. Autosomal dominant. EYA1

48
Q

orbital pain, bilateral proptosis, periorbital edema + photophobia, ethmoid sinusitis

A

Cavernous sinus thrombosis

49
Q

nonsyphilis interstitial keratitis, episodic vertigo, progressive SNHL

A

Cogan’s

50
Q

hamartomas + breast/thyroid/uterine/colon cancer

A

Cowden’s

51
Q

hypopigmentation, respiratory infections, neuropathies, coagulopathies

A

Chediak-Higashi

52
Q

craniosynotosis, parrot beak nose, CHL

A

Crouzon. FGFR2. Autosomal dominant

53
Q

ossification of the stylohyoidligament causing throat pain, recurrent foreign body sensation

A

Eagle syndrome

54
Q

abnormal extension of arachnoid diverticulum filled with CSF and displacing/compressing the pituitary gland

A

empty sella syndrome

55
Q

osteomas of the skull/mandible/maxilla + colonic polyps (VS jaw cysts + basal cell cancers VS hamartomas + thyroid cancer)

A

Gardner (vs familial nevoid BCC vs Cowden)

56
Q

nasopharyngeal torticollis caused by subluxation of the atlanto-axial joint

A

Griselle

57
Q

IJV/sigmoid sinus thrombosis 2/2 oropharyngeal infection

A

Lemierre

58
Q

imbalance or rocking sensation long after termination of prolonged exposure to motion

A

Mal de debarquement

59
Q

Name the MEN I/IIA/IIB disorder triads

A

MEN I - pituitary, parathyroid hyperplasia, pancreatic tumors; MENIIA - parathyroid adenoma, MTC, pheo; MEN IIB - MTC, pheo, marfanoid habitus, neuromas

60
Q

external and internal ophthalmoplegia, nonreactive pupil, ptosis, periorbital edema

A

cavernous sinus thrombosis syndrome

61
Q

punctate hemangiomas throughout mucosal tract of the body

A

HHT / osler-weber-rendu

62
Q

glossoptosis, micrognathia, cleft palate (name leading etiological explanation)

A

Pierre Robin

63
Q

microcytic anema, tongue fissures, esophageal webs

A

Plummer vinson

64
Q

ASA allergy, nasal polyps, asthma

A

Samter’s triad

65
Q

bilateral parotid enlargement, dry mucous membranes

A

Sjogren’s

66
Q

port wine stain, angiomas of the oral cavity/nasal mucosa

A

Sturge Weber

67
Q

intermittent vertigo, difference in blood pressure between in the two arms

A

Subclavian steal

68
Q

Tullio’s phenomenon, oscillopsia, autophony, CHL

A

SSCD

69
Q

Paralysis of CN 3/4/6, V1, paralysis of upper eyelid without loss of pupillary reactivity (vs with loss of pupillary reactivity)?

A

Superior orbital fissure (involvement of CN2 -> orbital apex syndrome)

70
Q

Facial twitch elicited from tapping the ipsilateral cheek. What does it indicate/suggest?

A

Chvostek’s sign. Hypocalcemia

71
Q

Charcot triad (nystagmus, scanning speech, intention tremor), bilateral internuclear ophthalmoplegia

A

Multiple sclerosis

ENT Written Board Prep (13 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions