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OP - Yield > 1 developmental defects > Flashcards

1 developmental defects Flashcards

1
Q

lateral facial cleft
where
associations (x4)

A

commissure to ear

Treacher Collins, hemifacial microsomia, Nager acrofacial dysostosis, amniotic rupture sequence

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2
Q

oblique facial cleft
where
assoc

A

upper lip to eye

can be assoc w CP

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3
Q

median cleft of upper lip assoc (x2)

A

oral-facial-digital syndrome and Ellis van Crevelde

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4
Q

most minimal CP

A

bifid uvula

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5
Q

submucous palatal cleft where

A

muscle only; surface mucosa intact

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6
Q

unfused soft palate muscle only; surface mucosa intact

A

submucous palatal cleft

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7
Q

pierre robin components (x3) and assoc (x2)

A

CP, mandibular micrognathia, glossoptosis

Stickler and velocardiofacial

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8
Q

Stickler and velocardiofacial what in common

A

pierre robin sequence

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9
Q

CP, mandibular micrognathia, glossoptosis

A

pierre robin

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10
Q

van der woude face look and genetics

A

CP + paramedian lip pits

IRF6 mutation

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11
Q

IRF6 mutation

A

van der woude

CP + paramedian lip pits

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12
Q

popliteal pterygium syndrome describe

A

CL+/- CP + paramedian lip pits
popliteal pterygia (webbing behind knee)
genital abnormalities
syngnathia (connection upper and lower ajw)

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13
Q

popliteal pterygia

A

popliteal pterygium syndrome
webbing behind knee

important bc paramedian lip pits and CL+/- CP

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14
Q

syngnathia

A

connection upper and lower jaw
popliteal pterygium syndrome
important bc paramedian lip pits and CL+/- CP

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15
Q

Kabuki syndrome describe

A 
CL+/-CP
eversion of eyelids
mental retardation
joint laxity
skeletal abnormalities
large ears
hypodontia

paramedian lip pits

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16
Q

ascher syndrome components

A

double lip, edema of upper eyelids, non toxic thyroid enlargement

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17
Q

oromandibular-limb hypogenesis syndromes components (x3)

A

microglossia, hypodactylia (absence of digits) and hypomelia (hypoplasia of limbs)

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18
Q

microglossia, hypodactylia (absence of digits) and hypomelia (hypoplasia of limbs)

A

oromandibular-limb hypogenesis syndromes

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19
Q

beckwith wiedemann syndrome components (body and face) and genetics

A 
omphalocele
visceromegaly
visceral tumors
gigantism
macroglossia

facial: nevus flammeus, earlobe indentations, maxillary hypoplasia

chr 11p15 defect

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20
Q 
omphalocele
visceromegaly
visceral tumors
gigantism
macroglossia
A

nevus flammeus, earlobe indentations, maxillary hypoplasia

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21
Q

nevus flammeus, earlobe indentations, maxillary hypoplasia

A

beckwith wiedemann

nevus flammeus also sturge weber

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22
Q

11p15 defect

A

beckwith wiedemann

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23
Q

melkerson rosenthal components (3)

A

fissured tongue, facial paralysis, lip swelling

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24
Q

fissured tongue, facial paralysis, lip swelling

A

melkerson rosenthal synbdrome

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25
Q

lines of Zahn

A

layered zones of plts and RBC in thrombosed varix

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26
Q

layered zones of plts and RBC in thrombosed varix

A

lines of Zahn

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27
Q

dystrophic calcification of thrombus

A

phlebolith

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28
Q

condylar hyperplasia ddx from hemifacial hyperplasia

A

hemifacial hyperplasia has soft tissue involvement

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29
Q

congenital condylar hypoplasia assoc (x3)

A

Treacher Collins
Goldenhar (oculo-auriculo-vertebral syndrome)
hemifacial microsomia

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30
Q

4 types of exostoses

A

buccal, palatal, solitary, reactive subpontine

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31
Q

reactive subpontine exostosis where

A

posterior bridge, alveolar bone

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32
Q

extra bone under posterior bridge, alveolar bone

A

reactive subpontine exostosis

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33
Q

eagle syndrome describe

A

symptomatic elongation of styloid process or calcification of stylohyoid ligament

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34
Q

eagle syndrome classically after what

A

tonsillectomy

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35
Q

eagle syndrome dangers

A

carotid artery syndrome - carotid compressed by process

traumatic - fracture of calcified ligament

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36
Q

symptomatic elongation of styloid process or calcification of stylohyoid ligament

A

eagle syndrome

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37
Q

types of palatal cysts in newborns

A

epstein pearls - median palate

bohns nodules - all over palate

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38
Q

palatal cysts all over palate

A

bohns nodules, newborn

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39
Q

median palate palatal cysts

A

epstein pearls, newborn

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40
Q

most common non-odontogenic cyst of mouth

A

nasopalatine duct cyst

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41
Q

nasopalatine duct cyst when only in soft tissue

A

cyst of incisive papilla

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42
Q

bohns vs epsteins

A

bohns all over, epstein midline

all on palate

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43
Q

median palatal cyst vs nasopalatine duct cyst

A

median palatal must show enlargement

otherwise just posteriorly positioned nasoplataine duct cyst

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44
Q

canals of scarpa

A

foramina within incisive foramen that can carry nasopalatine nerves

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45
Q

foramina within incisive foramen that can carry nasopalatine nerves

A

canals of scarpa

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46
Q

organ of jacobson

A

olfactory organ in some animals

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47
Q

epidermal cyst aka

A

infundibular cyst

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48
Q

infundibular cyst

A

epidermal cyst

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49
Q

pilar cyst aka

A

tricholemmal or isthmus-catagen cyst

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50
Q

tricholemmal cyst aja

A

pilar cyst

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51
Q

oral cyst lined w GI epithelium

A

heterotopic oral gastrointestinal cyst

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52
Q

sistrunk procedure

A

removal of thyroglossal duct cyst w hyoid bone and muscle

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53
Q

removal of thyroglossal duct cyst

A

sistrunk

with hyoid bone and muscle

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54
Q

hemihyperplasia what is and assoc (x6)

risks

A

asymmetric growth of 1 or more body parts
complex or simplr

neurofibromatosis
McCune Albright
Mafucci
segmental odontomaxillary dysplasia
Beckwith-Wiedemann sybdrome
Proteus syndrome

increased prevalence of abdominal tumors

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55
Q

hemihyperplasia when it’s just face

A

hemifacial hyperplasia

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56
Q

atrophy of one side of face – what is and why

A

progressive hemifacial atrophy (Parry-Romberg syndrome)
assoc w Lyme (Borrelia infx)
rel to localized scleroderma

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57
Q

parry romberg

A

progressive hemifacial atrophy

consider Lyme and localized scleroderma

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58
Q

becker nevus what is and assoc

A

hypertrichosis and hyperpigmentation

segmental odontomaxillary dysplasia

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59
Q

Crouzon sybdrome aka and genetics

A 
craniofacial dysostosis
FGFR2 mutation (chr 10)
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60
Q

FGFR2 mutation (chr 10)

A

crouzon and apert

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61
Q

clover leaf skull (kleeblattschadel deformity)

A

crouzon

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62
Q

crouzon skull

A

clover leaf

kleeblattschadel deformity)

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63
Q

apert syndrome aka and genetics

A 
acrocephalosyndactyly
FGFR2 mutation (chr 10)
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64
Q

treacher collins aka and genetics

A

mandibulofacial dysostosis

TCOF1

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65
Q

eyelid treacher collins

A

coloboma

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66
Q

syndromic association frequencies for CL+/-CP and CPO

A

30% of CL+/-CP
50% of CPO
syndromic

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67
Q

highest prevalence of orofacial clefts ethnically

A

asian

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68
Q

environmental risks for clefting

A

mom smiking/drinking, folic acid def, corticoids or antocinvulsants use

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69
Q

genes in pierre robin

A

SOX9/KCNJ2

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70
Q

digeorge syndrome

A

CATCH22 - chr 22 abnormality

Cardiac defect
Abnormal facies
Thymic aplasia --> defective cellular immunity
Cleft palate
HypoCaemia/hypoparathyroid
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71
Q

chr 22 + immunodefcy

A

DiGeorge - thymic aplasia

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72
Q

most common cause of syndromic clefting

A

van der woude - IRF6

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73
Q

everted eyelids, cleft lip, large ears

A

kabuki

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74
Q

irf 6

A

van der woude and popliteal pterygium apparetnly

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75
Q

orofacial digital syndrome describe

A

bifid tongue, multiple hyperplastic frenula

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76
Q

leukoedema locations

A

cheeks to lips

vagina, larynx, FOM, palatal pharyngeal

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77
Q

white and lacy but disappears when stretched

A

leukoedema

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78
Q

microglossia can locally cooccur with what

A

hypoplasia of mandible

lower incisors may be missing

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79
Q

microglossia, hypodactylia, hypomelia

A

oromandibular limb hypogenesis syndromes

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80
Q

beckwith wiedemann chromosome

A

11

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81
Q

omphalocele and portwine stain

A

beckwith wiedemann – also macroglossia

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82
Q

most common location for ectopic thyroid

A

foramen cecum of tongue – 90%

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83
Q

sex predilection for lingual thyroid

A

4-7x F

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84
Q

considerations for removal of lingual thyroid

A

for 70% it’s their only thyroid tissue

30% have hypothyroidism (compensatory?)

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85
Q

how to dx lingual thyroid

A

scan – avoid bx

hemorrhage + may be their only thyroid tissue

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86
Q

risks of lingual thyroid

A

removal – hypothyroidism and bleeding

by itself –> 1% malignancy, more common in M

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87
Q

syndromic fordyce granules

A

50-90x increase in Lynch syndrome

hereditary nonpolyposis colorectal cancer dyndrome

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88
Q

melkerson rosenthal

A

fissured tongue, facial paralysis, lip swelling

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89
Q

hairy tongue what is and causes

A

keratin accumulation on filiform papillae

tobacci, poor OHI, debilitation, abx, radiotx

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90
Q

coated tongue vs hairy tongue

A

accumulation of bacteria and epithelial cells

2/o hairlike filiform projections

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91
Q

most common varicosity

A

sublingual varix

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92
Q

when are isolated varices commonly noticed and where

A

lips and buccal mucosa

typically noticed after thrombosis

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93
Q

layered zones of plts and RBCs in thrombosed varix

A

lines of Zahn

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94
Q

lines of Zahn

A

layered zones of plts and RBC in thrombosed varix

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95
Q

caliber persistent artery what happens

A

main arterial branch extends up w/o reducing diameter
loss of tone
looks like papule on lip, w pulsation

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96
Q

lateral soft palate fistula what is, where, when

A

bilateral on anterior tonsillar pillar
can appear following infection, surgery, or developmental defect
eg absence of tonsil, hearing loss, preauricular fistulas

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97
Q

coronoid hyperplasia where, who, manifests

A

usually bilateral
5x more in M
unilateral – have to ddzx from osteoma or osteochondroma

mouth opening limitation or deviation of MD (unilateral) – towards defect bc gets stuck ; opening limitation if bilateral

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98
Q

condylar hyperplasia leads to

ddx from

A

facial asymmetry, prognathism, open/cross bite

ddx from hemifacial hyperplasia (soft tissue and teeth involved in latter)

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99
Q

congenital condylar hypoplasia when

A

treacher collins, goldenhar syndrome (oculo-auriculo-vertebral syndrome), hemifacial microsomia
can have complete apasia

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100
Q

acuired condylar hypoplasia

A

usually trauma

also infx, radiation, arthritis

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101
Q

condylar hypoplasia xray

A

short condylar process, shallow sigmoid notch, small condyle head

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102
Q

goldenhar syndrome aka and components

A

oculo-auriculo-vertebral syndrome

incomplete development of ear, nose, soft palate, lip, mandible
limbal dermoids, preauricular skin tags, strabismus

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103
Q

bifid condyle why?

A

trauma, abnormal mm attachment, teratogenic agents, persistence of fibrous tissue within condylar cartilage

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104
Q

4 types of exostoses

A

buccal (facial MD or MX); palatal tubercle (lingual MX tuberosity); solitary (2/2 irritation, eg graft placement); reactive subpontine (under posterior bridge)

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105
Q

extra bone under posterior bridge in alveolar bone

A

reactive subpontine exostosis

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106
Q

palatal tori morphologic classification

A

flat, spindle, nodular, lobular

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107
Q

mandibular tori laterality

A

90% bilateral

correlates with bruxism and # of remaining teeth

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108
Q

types of eagle syndrome

A

classic (after tonsilletcomy)
carotid artery/stylohyoid syndome (carotid compressed by process)
traumatic (fracture of calcified ligament)

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109
Q

stafne defect most common location

A

RL in angle of MD below canal between molars

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110
Q

cause of stafne

A

focal concavity of lingual mandible, usually contains sub-MD gland tissue

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111
Q

other rare locations for stafne

A

anterior MD (sublingual gland) and upper ramus (parotid gland)

112
Q

sex for stafne

A

80-90% M

113
Q

epstein vs bohn

A

epstein pearls - median palatal raphe - palatal cysts of newborn; from epithelium entrapment when shelves fuse
bohn’s nodules – scattered all over palate; palatal cysts of newborn; epithelial remnants of minor salivary glands

114
Q

nasolabial cyst aka and origin

A

Klestadt’s cyst

poss nasolacrimal duct?

115
Q

nasolabial cyst look

A

swelling of upper lip lateral to midline
elevation of nose ala
obliteration of mucolabial fold

116
Q

histo of nasolabial cyst

A

pseudostratified columnar epithelium, can have cilia amd goblet cells and apocrine lining

117
Q

most common non-odontogenic cyst of mouth

A

nasopalatine duct cyts – remnants of nasopalatine duct

118
Q

foramina in incisive foramen - what and what do

A

canals of scarpa

carry nasopalatine nerves

119
Q

canals of scarpa

A

foramina in incisive foramen

carry nasopalatine nerves

120
Q

preauricular pits 2 assoc

A

commissural lip pits and lateral soft palate fistulas

121
Q

accessory olfactory organ in some animals name and what related to in OP terms

A

organ of jacobson

nasopalatine duct cyst

122
Q

organ of jacobson

A

accessory olfactory organ in some animals

related to nasopalatine duct cyst maybe

123
Q

incisive canal vs cyst

A

if >6mm, consider a cyst (unless other symptoms are present)

124
Q

cyst of incisive papilla

A

soft tissue nasopalatine duct cyst

125
Q

soft tissue nasopalatine duct cyst

A

cyst of incisive papilla

126
Q

nasopalatine duct cyst xray

A

inverted pear between maxillary incisors

127
Q

inverted pear between maxillary incisors on xray

A

nasopalatine duct syt

128
Q

types of lining and histo features in nasopalatine duct cyst

A

85% squamous
can be columnar, cuboidal, mixed
+ canal contents (nerves and arteries)

129
Q

diagnostic criteria (x7) for median palatal cyst and why relevant

A

poss posterioarly positioned nasopalatine duct cyst

criteria: critical enlargement, midline location, posterior to palatine papilla, ovoid or round, teeth are vital, no communication w incisive canal, no nerves, vessels, cartilage, or MSG in walll

130
Q

most common follicular cyst of skin

A

epidermal (80%)

131
Q

epidermal cyst syndromic

A

Gardner

132
Q

epidermal inclusion cyst what’s up

A

traumatic implanttion of epithelium

133
Q

epidermal vs pilar cyst

A

epidermal 80% pilar 15%

pilar – no granular layer, compact keratin

134
Q

pilar cyst aka

A

tricholemmal or isthmus-catagen cyst

135
Q

dermoid cyst is a form of

A

benign cystic form of teratoma

136
Q

complex teratoma criteria and locations

A

complex – all 3 layers
more in ovaries and testes
can be benign or malignant

137
Q

immature teratoma features

A

immature = malignant

contains primitive neuroepithelium

138
Q

teratoma with primitive neuroepithelium

A

immature/malignant

139
Q

oral teratoma aka and location

A

epignathus
usually congenital
extend through cleft palate from pituitary via rathke’s piouch
high mortality 2/2 airway obstruction

140
Q

heterotopic oral gastrointestinal cyst aka and location

A

aka enterocystoma
oral cyst lined w GI epithelium
most in FOM and tongue
considered choritstoma – normal tissue in abnormal location

141
Q

dermoid cyst vs epidermoid cyst

A

dermoid has dermal appendages in wall

142
Q

thyroglossal duct cyst: location, clinical diagnostic aid, age

A

midline neck
60-80% below hyoid bone (often attached)
vertical movement during swallowing
usually children and young adults

143
Q

removal of thyroglossal duct cyst

A

sistrunk

with hyoid bone and muscle

144
Q

risks of thyroglossal duct cyst

A

1% –> papillary thyroid carcinoma

145
Q

branchial cleft cyst aka, location, most common origin, and ddx

A

upper lateral neck anterior to SCM
95% from 2nd branchial arch

if older pt, check lining if malignant to rule out cystic metastatic SCC

146
Q

oral lymphoepithelial cyst location and origin

A

FOM most common

waldeyer’s ring: palatine tonsils, lingual tonsils, pharyngeal adenoids

147
Q

hemihyperplasia aka and what is

A

hemihypertrophy

asymmetric growth of 1 or more body parts

148
Q

complex vs simple hemihyperplasua

A

complex entire side of body

simple single limb

149
Q

hemihyperplasia more common isolated or syndromic

which syndromes (x6)

A

isolated more common

syndromes: NF, McCune-Albright, Maffucci, segmental odontomaxillary dysplasia, Beckwith-Wiedemann, Proteus

150
Q

skin and viscera in hemihyperplasia

A

skin: increased pigmentation, hypertrichosis, telangiectasias, nevus flammeus
increased prevalence of abdominal tumors: Wilms, adrenal Ca, hepatoblastoma

151
Q

hemifacial hyperplasia

A

hemihyperplasia of just on side of face

premature eruption

152
Q

progressive hemifacial atrophy aka, manifests, triggers

A

aka Parry-Romberg syndrome
atrophy of one side of face
pigmentation, enophthalmos, delayed eruption of teeth
assoc w trauma and Lyme dz (Borrelia infection)

153
Q

progressive hemifacial atrophy progression and ddx

A

starts on skin )pigmentation), then nerves and bones

related to localized(linear) scleroderma - also has coupe de sabre scar on forehead

154
Q

coup de sabre

A

localized scleroderma and progressive hemifacial atrophy

155
Q

atrophy of one side of face

pigmentation, enophthalmos, delayed eruption of teeth

A

progressive hemifacial atrophy

156
Q

segmental odontomaxillary dysplasia aka and oral manifestations

A

hemimaxillofacial dysplasia
painless unilateral enlargement of mx + fibrous hyperplasia of overlying gingiva
absence of 1+ mx PM, hypoplastic primary teeth

157
Q

segmental odontomaxillary dysplasia xray

A

vertically oriented and thickened bony trabeculae (granular appearance)

158
Q

hypertrichosis and rough erythema

A

becker nevus –> segmental odontomaxillary dysplasia

159
Q

absence of 1+ mx PM, hypoplastic primary teeth, vertical trabeculae

A

segmental odontomaxillary dysplasia

160
Q

histo segmental odontomaxillary dysplasia

A

soft tissue - fibrosis

bone – irregular trabeculae w woven appearance and reversal lines

161
Q

crouzon syndrome aka and genetics

A

craniofacial dysostosis
FGFR2 mutation
related to increased paternal age

162
Q

crouzon skull

A

craniosynostosis - premature closing of cranial sutures
brachy, scapho, trigonocephaly or clover lead (Kleeblattschadel deformity(

xray: beaten metal/digital markings

163
Q

crouzon face look

A

midfacial hypoplasia, ocular proprosis, teeth crowding, midline maxillary pseudocleft
visual and hearing loss
no mental retardation

164
Q

midline maxillary pseudocleft

A

crouzon and paert (hyaluronic acid deposition)

165
Q

enophthalmos

A

progressive hemifacial atrophy

166
Q

apert syndrome aka and genetics

A

acrocephalosyndactyly

AD, FGFR2, increased paternal age

167
Q

craniofacial dysostosis aka

A

crouzon

168
Q

acrocephalosyndactyly aka

A

apert syndrome

169
Q

FGFR2 mutation

A

crouzon and apert

170
Q

increased paternal age and developmental abnormalities

A

crouzon, apert, treacher collin

171
Q

apert skull

A

acrobrachycephaly (tower skull), tall forehead, clover leaf skull, visual loss
beaten metal on xray

172
Q

clover leaf skull

A

crouzon and apert

kleeblattschadel

173
Q

apert vs other craniosynostoses

A

syndactyly of hands and feet in apert

174
Q

apert oral

A

open mouth appearance, trapezoid lips,
cleft soft palate/bifid ucula
lateral hard palate swelling with pseudocleft (hyaluronic acid deposition)
shovel incisors

175
Q

shovel incisors and trapezoid lips

A

apert

176
Q

beaten metal

A

copper - hypophosphatasia

metal - apert and crouzon

177
Q

treacher collins aka and genetics

A

mandibulofacial dysostosis
TCOF1 (treacle) on chr 5
increased paternal age

178
Q

TCOF1 aka, chromosome, result

A

treacle
5
treacher collins syndrome

179
Q

treacle aka, chromosome, result

A

TCOF1
5
treacher collins syndrome

180
Q

treacher collins face

A

hypoplastic zygoma, narrow face, depressed cheeks, downward palpebral fissure

coloboma - notch in outer lower eyelid )no eyelashes medial to it

181
Q

hypoplastic zygoma, narrow face, depressed cheeks, downward palpebral fissure

A

treacher collins

182
Q

notch in outer lower eyelid with no eyelashes medial to it

A

coloboma

eg treacher collins

goltz-gorlin syndrome - coloboma of iris

183
Q

coloboma of iris

A

goltz-gorlin syndrome -

184
Q

development of central face when

A

4 wks

185
Q

development of upper lip when

A

6-7 wks

186
Q

primary palate merger of what

A

medial nasal processes –> premaxilla (the 4 incisors)

187
Q

premaxilla where and origin

A

4 incisors - premaxilla

from medial nasal processes, primary palte

188
Q

secondary palate origin and result

A

90% of hard and soft palate

from maxillary process of 1st branchial arch

189
Q

cleft lip why

A

defect in fusion of medial nasal process + maxillary process

190
Q

cleft palate why

A

failure of the palatal shelves to fuse

191
Q

minimal cleft palate

A

bifid uvula

192
Q

CL+CP - CL only - CP only %%

A

CL + CP = 45 %
CPO = 30%
Isolated CL=25%

193
Q

lateral facial cleft why

4 syndromes

A

failure of fusion between maxillary + mandibular process (extends to ear)

Usually occurs with other syndromes
 Mandibular dysostosis
 Oculo-auriculo-vertebral spectrum (hemifacial macrosomia)
 Nager acrofacial dysostosis
 Amniotic rupture sequence
194
Q

failure of fusion between maxillary + mandibular process

A

lateral facial cleft

195
Q

oblique facial cleft why

A

Failure of fusion between lateral nasal + maxillary process
 extends from lip to eye
 nearly always associated with CP

196
Q

Failure of fusion between lateral nasal + maxillary process

A

oblique facial cleft
extends from lip to eye
 nearly always associated with CP

197
Q

median cleft of upper lip why and syndromes

A

failure of fusion of the medial nasal process. Associated with a number of syndromes
 oral-facial-digital syndrome
 Ellis Van Crevald Syndrome
 Holoprosencephaly

198
Q

commissural lip pits
origin
location
genetics

A

congenital but develop later in life / corner of mouth / AD / failure of max
+ mandibular process to fuse

199
Q

pierre robin sequence triad and syndromes

A

 CP / mandibular micrognathia / glossoptosis (airway obstruction from posterior
displacement of tongue
 Associated with Stickler Syndrome
 Associated with velocardiofacial syndrome = DiGeorge Syndrome ( Catch 22)

200
Q

digeorge components

A 
CATCH 22
Cardiac defect
Abnormal facial features
Thymus deficiency
Cleft palate
Hypocalcemia
#22q11.2
201
Q

Thymus deficiency

Cleft palate

A

digeorge

202
Q

other name for digeorge

A

velocardiofacial syndrome

203
Q

CATCH 22

A

digeorge

204
Q

paramedian lip pits aka, inheritance, origin, and syndromes

A

AD
assoc w orofacial clefts
invagination of lower lip / lateral sulci of mandibular Arch

van der woude, kabuki, popliteal pterygium

205
Q

most common cause of syndromic clefting

A

van der woude

206
Q

Oro-mandibular-limb hypogenesis syndrome three key components

A

 Hypodactylia: absence of digits
 Hypoamelia: absence of limbs
 Microglossia

207
Q

lateral soft palatal fistula preferred location

A

bilateral>unilateral

anterior tonsillar pillae

208
Q

melkersson rosenthal components

A

fissured tongue
facial paralysis
orofacial granulomatosis

209
Q

coronoid hyperplasia sex and laterality

A

M>F
bi> uni
impinges on zygoma and restricts opening

210
Q

syndromes w condylar hypoplasia

A

 Mandibulofacial dysostosis ( Treacher Collins syndrome)
 Oculoauriculovertebral syndrome (Goldenhar Syndrome)
 Hemifacial microsomia

211
Q

treacher collins embryonic origin
inheritance
genetics
face look

A 
1st and 2nd branchial arches
AD/ 5q32 (TCOF1)
Hypoplasic mandible
Coloboma
Ear deformity
Cleft palate
SG hypoplasia
212
Q

Pain when turning head, otalgia, headache, dizziness, syncope, dysphagia, dysphonia eval for what

A

eagle

213
Q

non-tonsillectomy eagle

A

carotid artery syndrome

214
Q

soft counterpart of nasopalatine

A

cyst of incisive papilla

215
Q

epidermoid cysts syndromc

A

gardner

216
Q

dermoid cyst look and approach depending on location

A

 above geniohyoid = sublingual swelling; likes midline FOM – intraoral
 below geniohyoid = submental swelling double chin – extraoral

217
Q

dermoid cyst on palpation

A

doughy; retains pitting after pressure

218
Q

pilar cyst aka and ddx from epidermoid

A

Trichilemmal cyst ; Isthmus-Catagen cyst

no granular layer and packed keratin/abrupt from big keratinocytes into keratin

219
Q

thyroglossal duct cyst

when develop and where can be

A

development at 3 wks in utero
anywhere from tongue to suprasternal notch
 60-80% below hyoid bone

220
Q

age for thyroglossal duct cyst

A

<20 for 50%

221
Q

thyroglossal duct cyst embryo

A

tuberculum impar + copula of tongue = foramen cecum

222
Q

risks of thyroglossal

A

10% recurrence

 1-2 % carcinoma

223
Q

surgical procedure for thyroglossal duct cyst

A

sistrunk (w hyoid)

224
Q

asymmetrical growth of one or more body parts

A

hemihyperplasia

225
Q

complex vs simple hemihyperplasia

A

complex - entire side of body

simple - one limb

226
Q

skin in hemihyperplasia

A

thick, increased pigmentation, hypertrichosis, telangiectasia, nevus flammeus

227
Q

malignancy in hemihyperplasia

A

abdominal tumors

Wilms, adrenal cortical carcinoma, hepatoblastoma

228
Q

hemihyperplasia but only face

A

hemifacial hyperplasia

229
Q

progressive hemifacial atrophy aka, sex, duration

A

parry romberg and romberg; F>M, slows down after 20 years

230
Q

face and mouth and parry romberg

A 
similar features to scleroderma
 coup de sabre a sharp line of demarcation resembling a large linear scar
 local alopecia
 enophthalmos
 brown pigmentation
 trigeminal neuralgia / epilepsy/ headache
 delayed eruption
 atrophy of tongue
 posterior open bite
231
Q

hemihyperplasia sex and side

A

F, right

232
Q

segmental odontomaxillary dysplasia aka and sex

A

hemimaxillofacial dysplasia, M

233
Q

mouth in segmental odontomaxillary dysplasia

A

unilateral enlargement, missing PMs, gingival hyperplasia

234
Q

skin in segmental odontomaxillary dysplasia

A

becker nevus - ipsilateral hypertrichosis and hyperpigmentation of shoulder and trunk

235
Q

hypertrichosis and hyperpigmentation of shoulder and trunk

A

becker nevus

segmental odontomaxillary dysplasia

236
Q

classic ddx for segmental odontomaxillary dysplasis

A

fibrous dysplasia, hemifacial dysplasia

237
Q

crouzon syndrome aka, genetics, mechanism

A

craniofacial dysostosis

Early closure of sutures / 10q26 (FGFR-2)

238
Q

4 heads of crouzon

A

Brachycephaly: short head
 Scaphocephaly: boat shaped
 Trigoncephaly: triangle shaped
 Kleeblasttshadel deformity (clover leaf )

239
Q

mouth of crouzon

A

Underdevelopment of maxilla
 Crowding of teeth
 Congenital missing teeth

240
Q

head and face of crouzon

xray?

A

Ocular proptosis
 Blindness/ hearing loss
 Radiograph: Beaten metal

241
Q

beaten metal skull

A

Apert
Crouzon
Hypophosphatasia

242
Q

apert syndrome aka, genetics

A

Acrocephalosyndactyly

 10q26 (FGFR-2)

243
Q

2 heads of apert

A

Acrobrachycephaly: tower head

 Kleeblasttshadel deformity (clover leaf

244
Q

mouth of apert

A 
Trapezoid lips
 Missin lateral or PM
 Mouth breather
 CP-bifid uvula
 V-shaped maxilla
 Class III malocclusion
 Open bite
 Post.crossbie
 Pseudocleft due To GAG
245
Q

pierre robin sequence

components and syndromes

A 
Cleft palate (CP)
Mand.micrognathia
Glossoptosis causing airway obstruction
Isolated vs with syndromes
 Stickler syndrome
 Velocardiofacial
246
Q

stickler syndrome aka and clinical look

A

AKA:Hereditary progressive
artho-ophthalmopathy

Facial abnormalities
 Flat cheeks
 Flat nasal bridge
 Small jaws
 Pronounced lips
 CP
Ocular (myopia)
Hearing loss
Joint problems
247
Q

popliteal pterygium syndrome inheritance/gene and clinical

A 
AD, IRF6?
Skin: webs impair mobility
Face: CL /CP
Hypodontia
Genitals
248
Q

paramedian lip pits and genital troubles

A

popliteal pterygium

249
Q

paramedian lip pits and skeletal problems

A

kabuki

250
Q

kabuki inheritance and clinial

A

AD
Heart defect

Eversion of lower lat. Eyelids
Large ears, hearing prob
CL/CP
Hypodontia
Joint laxity
Skeletal problems
251
Q

van der woude inheritance/genetics and clinical

A

AD; IRF6 on chr 1q32-q41
Most common form of syndromic clefting
CP/CL + paramedian lip pits
Hypodontia

252
Q

ascher syndrome components

A

Double lip; upper> lower
Nontoxic thyroid goiter
Brepharochalasis (edema of upper eyelids)

253
Q

Oro-mandibular-limb

hypogenesis syndrome components

A 
Hypodactylia
Hypomelia
CP
Hypoplasia of mand
Low incisors missing
MICROGLOSSIA
254
Q

beckwith wiedemann inheritance/genetics and components

A

AD; 11p15

MACROGLOSSIA
Omphalocele
Neonatal hypoglycemia
Gigantism
Visceromegaly
HIGH RISK FOR
1- Wilms tumor
2- Neuroblastoma
3- Rhabdomyosarcoma
4- Hepatoblastoma
255
Q 
eagle syndrome: 
why classic?
population
manifestation
nerves affected
mechanic cause
A

classic after tonsillectomy
carotid artery not

Adults
Pain during swallowing
Pain when turning head
Cranial nerves V, VII, IX, X
Elongation of stylohyoid process and/or
Mineralization of Stylohyoid ligament
256
Q

Pain during swallowing

Pain when turning head

A

suspect eagle

257
Q

etiology of progressive hemifacial atrophy

A

Maybe due to
Lyme disease
(Borrelia) or
Trauma

258
Q

progressive hemifacial atrophy aka and similar to what

A

Progressive facial hemiatrophy
Romberg Syndrome
Parry Romberg Syndrome

Similar to loc. scleroderma (coup de sabre)

259
Q

population/face of hemifacial atrophy

A 
F > M )starts early)
Enophthalmos / Local alopecia
Atrophy of lip and tongue
Post. open bite
Mouth deviated to affected side
260
Q

segmental odontomaxillary dysplasia ddx

A

fibrous dysplasia and hemifacial hyperplasia

261
Q

mouth and skin in segmental odontomaxillary dysplasia

A 
Uni. Enlargement of maxilla
Fibrous hyperplasia
Some teeth missing
Primary teeth hypolastic
Sinus smaller on affected side
Becker’s Nevus
262
Q

FGFR2 location, inheritance, and syndromes

A

Chr # 10q26
AD
crouzon and apert

263
Q

kleeblattschadel deformity

A

severe crouzon and apert (cloverleaf skull)

264
Q

skull of crouzon vs apert

A

both when extreme cloverleaf
both beaten metal on xray

crouzon: trigono, scapho, brachy
apert: acrobrachy (tower)

265
Q

mouth of apert

A 
 CP + pseudocleft
 Bifid uvula
 V shaped arch
 Class 3
 Trapezoid lips; mouth breathing
266
Q

intellectual disability apert vs crouzon

A

more severe in apert?

267
Q

apert vs crouzon

A

syndactyly in apert: 2-3-4 hands and feet

268
Q

treacher collins aka (2)

A

Mandibulofacial Dysostosis

Franceschetti-Zwahlen-Klein

269
Q

treacher collins genetics and inheritance

A

AD
TCOF1
5q32-q33.1

270
Q

treacher collins what’s defective

face and mouth

A

Defect in 1st + 2nd brachial arch
Hypoplastic zygoma causing depressed cheek
1/3 CP
Hypoplastic SG/ Pharynx/ Condyle /Coronoid
Coloboma: Notch along outside of eye (lower lid)
Mandible underdeveloped

271
Q

Notch along outside of eye (lower lid)

A

coloboma in treacher collins

272
Q

hypoplastic zygoma

A

treacher collins

273
Q

defect in 1-2 branchial arch

A

treacher collins

274
Q

digeorge what’s defective

A

3-4 pharyngeal pouches

275
Q

3-4 pharyngeal pouches

A

digeorge

OP - Yield (19 decks)

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