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ENT Written Board Prep > Buzzwords Deck > Flashcards

Buzzwords Deck Flashcards

1
Q

Albers Schoonberg

A

osteopetrosis of bony IAC, CN III, VII, and VIII palsies

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2
Q

Alport

A

XR (COL4A5), hematuria/proteinuria (nephritis), high freq SNHL, anterior lenticonus

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3
Q

Apert

A

AD, craniosynostosis, syndactyly, CHL, FGFR mutation

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4
Q

Binder

A

maxillonasal dysplasia, absent anterior nasal spine, class III occlusion

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5
Q

Bogorad

A

CN VII injury, aberrant SMG parasympathetic innervation of lacrimal gland

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6
Q

Branchial oto renal (Melnick-Fraser)

A

AD, EYA1, mixed HL, pinna deformities, kidney abnl

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7
Q

Cayler

A

unilateral lower lip paralysis, cardiac defects

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8
Q

CHARGE

A

CHD7, coloboma, choanal atresia, wedge-shaped mixed hearing loss, Mondini deformity, absent lobule

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9
Q

Chediak-Higashi

A

hypopigmentation, respiratory infections, neuropathies, coagulopathies

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10
Q

Churg-Strauss

A

eosinophilia, asthma, peripheral neuropathy 2/2 vasculitis, transient pulmonary infiltrates, sinusitis, extravascular eosinophils

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11
Q

Cogan

A

autoimmune, uveitis/interstitial keratitis, b/l fluctuating to profound SNHL, vertigo

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12
Q

Collet-Sicard

A

CN IX, X, XI, XII palsy

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13
Q

Cowden

A

AD, hamartomas, breast/thyroid/uterine ca

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14
Q

Crouzon

A

AD, craniosynostosis, midface hypoplasia, ocular proptosis, parrot beak nose, CHL, FGFR mutation

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15
Q

Edwards

A

trisomy 18, closed fists, micrognathia, prominent occiput, microcephaly, rocker bottom feet

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16
Q

Gardner’s

A

FAP, paranasal sinus osteomas, supernumerary teeth

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17
Q

Gorlin

A

AD, chrom9, falx cerebri calcifications, cutaneous BCC, OKCs, bifid ribs, scoliosis, frontal bossing, developmental delay

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18
Q

Gottfredson’s

A

clivus/NP tumor, CN VI and XII palsies

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19
Q

Gradenigo

A

CN VI palsy, otorrhea, retroorbital pain, petrous apicitis

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20
Q

Grisel

A

torticollis, A-A subluxation, inflammatory ligamentous laxity, RPA

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21
Q

Heerfordt’s

A

uveitis, parotitis, SNHL, fever/malaise, facial paralysis

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22
Q

Jervell Lange-Nielsen

A

AR, chrom11p15.5, KCNQ1, K channel, SNHL

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23
Q

Kallman

A

olfactory bulb abscence, hypogonatrophic hypogonadism

24
Q

Kasabach-Merritt

A

thrombocytopenia, vascular tumors (tufted angioma), consumptive coagulopathy

25
Kleine-Levin
recurrent hypersomnia, obese adolescent males, irritability
26
Lemierre
PTA, IJ thrombophlebitis, fusobacterium, metronidazole
27
Loeys-Dietz
AD, hypertelorism, cleft palate, bifid uvula, aortic tortuosity
28
Marine-Lenhart
Grave's disease, toxic MN goiter
29
Melkersson-Rosenthal
recurrent facial edema and paresis, angular cheilitis, fissured tongue, adolescents
30
MEN 1
hyperparathyroidism (4 gland), pituitary adenoma, pancreatic tumors
31
MEN 2a
AD, parathyroid hyperplasia, medullary thyroid ca, pheo
32
MEN 2b
RET protooncogene chrom 10, medullary thyroid ca, pheo, mucosal neuromas, marfanoid
33
Meniere's
1:10 vestibular migraines, thiazide diuretics
34
Mobius
CN VI and VII palsies, sometimes V and VIII, club foot
35
Neurofibromatosis 1
AD, chrom17, optic glioma, cafe au lait
36
Neurofibromatosis 2
AD, 22q12 merlin protein, vestibular schwannoma
37
Osler Weber Rendu (HHT)
AD, telangiectasias, epistaxis, pulm AVMs
38
Pendred
AR, chrom7 PDS (SLC26A4) gene (iodine transport), +perchlorate, thyroid goiter, profound SNHL, b/l EVA, Mondini malform (1.5 turns)
39
PFAPA
cyclic fevers, apthous stomatitis, pharyngitis, cervical adenopathy, tonsillectomy
40
Pfeiffer
AD, craniosynostosis, CHL, FGFR mutation, broad thumbs and toes, types 1, 2 (cloverleaf skull), 3
41
Plummer-Vinson
iron deficiency ademia, Scandinavian women, esophageal webs, chelitis, hypothyroidism, postcricoid SCCa, hiatal hernia, splenomegaly, achlorhydria
42
Ramsay Hunt
VZV, vesicles in conchal bowl, vertigo, tinnitus, severe facial paralysis, valacyclovir x14d or famciclovir x10d + steroids
43
Sjogren
SSA, SSB, MALT lymphoma
44
Stickler
AD, COL2A1, Pierre-Robin, HL, arthritis, joint laxity, cleft palate
45
Sturge Weber
V1 port wine stain, glaucoma, leptomeningeal AVM, seizures, cross bite, developmental delay
46
Susac
retinal microangiopathy, HL, encephalopathy
47
Treacher Collins
AD, TCOF treacle protein, midface hypoplasia, downward slanting eye, micrognathia, CHL, malformed ears, cleft palate
48
Usher
AR, progressive retinitis pigmentosa (dx with electroretinography), vertigo (1), SNHL
49
Van der Woude
AD, lower lip pits, cleft lip +/- palate, hypodontia, arched palate, congenital heart disease, ankyloglossia, syndactyly
50
Velocardiofacial (DiGeorge/22q)
carotid medialization, hypocalcemia, SNHL, palatal defects, thyrmic aplasia, kidney abnl, medialized carotids
51
Vernet’s
CN IX, X, XI palsies
52
Vogt Koyanagi Harada
autoimmune HL, periorbital depigmentation
53
Villaret
CN IX, X, XI, XII, Horner’s
54
Von Hippel-Lindau
retinal hemangioblastomas, renal cysts, RCC, pheo, endolymphatic sac tumors
55
Waardenburg
AD, white forelock, dystopia canthorum (1), SNHL (2\>1), synophrys, heterochromic iritis
56
Wegner's
middle (COM) and inner ear disease (recurrent vertigo and HL)
57
Wildervanck
mondini, female, cervical fusion, eye mvt disorder

ENT Written Board Prep (13 decks)

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