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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
Q

Kleine-Levin

A

recurrent hypersomnia, obese adolescent males, irritability

26
Q

Lemierre

A

PTA, IJ thrombophlebitis, fusobacterium, metronidazole

27
Q

Loeys-Dietz

A

AD, hypertelorism, cleft palate, bifid uvula, aortic tortuosity

28
Q

Marine-Lenhart

A

Grave’s disease, toxic MN goiter

29
Q

Melkersson-Rosenthal

A

recurrent facial edema and paresis, angular cheilitis, fissured tongue, adolescents

30
Q

MEN 1

A

hyperparathyroidism (4 gland), pituitary adenoma, pancreatic tumors

31
Q

MEN 2a

A

AD, parathyroid hyperplasia, medullary thyroid ca, pheo

32
Q

MEN 2b

A

RET protooncogene chrom 10, medullary thyroid ca, pheo, mucosal neuromas, marfanoid

33
Q

Meniere’s

A

1:10 vestibular migraines, thiazide diuretics

34
Q

Mobius

A

CN VI and VII palsies, sometimes V and VIII, club foot

35
Q

Neurofibromatosis 1

A

AD, chrom17, optic glioma, cafe au lait

36
Q

Neurofibromatosis 2

A

AD, 22q12 merlin protein, vestibular schwannoma

37
Q

Osler Weber Rendu (HHT)

A

AD, telangiectasias, epistaxis, pulm AVMs

38
Q

Pendred

A

AR, chrom7 PDS (SLC26A4) gene (iodine transport), +perchlorate, thyroid goiter, profound SNHL, b/l EVA, Mondini malform (1.5 turns)

39
Q

PFAPA

A

cyclic fevers, apthous stomatitis, pharyngitis, cervical adenopathy, tonsillectomy

40
Q

Pfeiffer

A

AD, craniosynostosis, CHL, FGFR mutation, broad thumbs and toes, types 1, 2 (cloverleaf skull), 3

41
Q

Plummer-Vinson

A

iron deficiency ademia, Scandinavian women, esophageal webs, chelitis, hypothyroidism, postcricoid SCCa, hiatal hernia, splenomegaly, achlorhydria

42
Q

Ramsay Hunt

A

VZV, vesicles in conchal bowl, vertigo, tinnitus, severe facial paralysis, valacyclovir x14d or famciclovir x10d + steroids

43
Q

Sjogren

A

SSA, SSB, MALT lymphoma

44
Q

Stickler

A

AD, COL2A1, Pierre-Robin, HL, arthritis, joint laxity, cleft palate

45
Q

Sturge Weber

A

V1 port wine stain, glaucoma, leptomeningeal AVM, seizures, cross bite, developmental delay

46
Q

Susac

A

retinal microangiopathy, HL, encephalopathy

47
Q

Treacher Collins

A

AD, TCOF treacle protein, midface hypoplasia, downward slanting eye, micrognathia, CHL, malformed ears, cleft palate

48
Q

Usher

A

AR, progressive retinitis pigmentosa (dx with electroretinography), vertigo (1), SNHL

49
Q

Van der Woude

A

AD, lower lip pits, cleft lip +/- palate, hypodontia, arched palate, congenital heart disease, ankyloglossia, syndactyly

50
Q

Velocardiofacial (DiGeorge/22q)

A

carotid medialization, hypocalcemia, SNHL, palatal defects, thyrmic aplasia, kidney abnl, medialized carotids

51
Q

Vernet’s

A

CN IX, X, XI palsies

52
Q

Vogt Koyanagi Harada

A

autoimmune HL, periorbital depigmentation

53
Q

Villaret

A

CN IX, X, XI, XII, Horner’s

54
Q

Von Hippel-Lindau

A

retinal hemangioblastomas, renal cysts, RCC, pheo, endolymphatic sac tumors

55
Q

Waardenburg

A

AD, white forelock, dystopia canthorum (1), SNHL (2>1), synophrys, heterochromic iritis

56
Q

Wegner’s

A

middle (COM) and inner ear disease (recurrent vertigo and HL)

57
Q

Wildervanck

A

mondini, female, cervical fusion, eye mvt disorder

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