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Pathology > HEAD & NECK DEVELOPMENTAL DISORDERS > Flashcards

HEAD & NECK DEVELOPMENTAL DISORDERS Flashcards

1
Q

C ong e ni tal anomal ies are

A

s t ru c t ural d e fe ct s t h at are p re s e nt
at b i r t h . C ong e ni t al d oe s not i mp l y
a g e net ic b as i s

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2
Q

M al format ion s y nd rome re fe r s to

A

mu l t iple c ong e ni tal anomali es t h at
re s u lt f rom a s i ng l e c au s at ive
c ond i t i on t h at s i mu lt aneous ly
af fe ct s s everal t i s s ues .

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3
Q

Se qu enc e re fe r s to

A

mu l t iple
c ong e ni t al anomal ies t h at re s u l t
f rom a s i ng l e c aus ative c ond i t ion
t h at p rod u ces a s e qu e nc e of
d owns t ream e f fe ct s

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4
Q

AGNATHIA
(4)

A

Lethal
Failure of migration of
neural crest
mesenchyme
Aplasia of mandible
Ears fused in midline

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5
Q

MICROGNATHIA
(4)

A

1.Cleidocranial Dysplasia
2.Craniofacial Dysplasia
3.Mandibulofacial Dysplasia
4.Pierre Robin Sequence

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6
Q

1.Cleidocranial Dysplasia

A

Marie-Sainton Disease

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7
Q

2.Craniofacial Dysplasia

A

Crouzon Syndrome

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8
Q

3.Mandibulofacial Dysplasia

A

Treacher Collins Syndrome

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9
Q

CLEIDOCRANIAL DYSPLASIA ( C LEIDOCRANIAL DYSOSTOSIS ,
M ARIE-SAINTON D IS EASE)

 A utos omal d o minant , b ut
m a ny c a s e s a r e
 A s s ociated w i t h a m u t ati on
i n t h e
 C BFA1 a l s o p l ay s a ro l e i n

A

n e w m u t at ions

C o re B i nd ing Fa c tor
A l p ha 1 ( C BFA 1) g e ne a t
6 p 21 t h at c o n t rols
o s teoblas t d i f ferent iat ion,
r e s ult ing i n a g e neraliz ed
d i s ord er o f s ke let al
s t ruc tures

o d ontogenes is t h rough
e f fec t s o n d e nt al l a mina
p roliferat ion

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10
Q

CLEIDOCRANIAL DYSPLASIA
(4)

A

 H y p opl asia o f c l av ic les
 Fro nt a l b o s sing
 M i df a ce hy poplas ia
 S u pernumerar y te et h

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11
Q

CRANIOFACIAL DYSPLASIA
( C R A N I O FAC I A L DY S O S TO S I S , C R O U Z O N SY N D RO M E )
(6)

A

 A utos omal d o minant
 M u t atio n i n f i b roblas t g row t h f a c tor r e c eptor ( F G FR 2) g e ne a t
10 q
 Va ri ab ilit y i n c l i nical a p p earanc e
 C r anios yn ostosi s - p rematu re c l os ing o f c r ani al
s u t ures
 M i df ace hy poplas ia
 P roptos is - s h al low o r b its

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12
Q

RADIOGRAPHIC CHANGES IN
CRANIOFACIAL DYSPLASIA
(2)

A

 I n c rea sed d i git a l m a rki ngs
 “Beaten metal” pattern

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13
Q

MANDIBULOFACIAL DYSPLASIA
(MANDIBULOFACIAL DYSOSTOSIS,
TREACHER COLLINS SYNDROME)
(8)

A

 Au to s o m a l d o m i n a n t
i n h e r i t a n c e
 M u t a t i o n o f g e n e a t 5 q 31 . 3 - 3 2
 D e f e c t s i n s t r u c t u r e s d e r i ve d
fo r m t h e 1 s t a n d 2 n d b r a n c h i a l
a rc h e s
 H y p o p l a s t i c z yg o m a
 C o l o b o m a ( n o t c h ) o f l o we r
eye l i d
 E a r a n o m a l i e s
 M a n d i b u l a r hy p o pl a s i a
 D ow nward- sl anti ng
p al pebral f i s s ures

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14
Q

PIERRE ROBIN SEQUENCE
(COMPLEX/SYNDROME)
(3)

A

 P i e r r e R o b i n 1 9 2 3
1 . M i c r o g n a t h i a - s m a l l l o w e r j a w
2 . C l e f t p a l a t e
3 . G l o s s o p t o s i s - t o n g u e
d i s p l a c e m e n t

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15
Q

PIERRE ROBIN SEQUENCE
(COMPLEX/SYNDROME)
 S e q u e n c e o f e v e n t s :

A

1 . M a n d i b u l a r h y p o p l a s i a
2 . P a l a t a l c l e f t
3 . G l o s s o p t o s i s

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16
Q

skipped
CLINICAL PROBLEMS IN
PIERRE ROBIN SEQUENCE
(4)

A

Choking episodes
Feeding dif ficulties
Breathing
dif ficulties
Ear infections

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17
Q

MACROGNATHIA
(1)

A

A c romegaly

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18
Q

ACROMEGALY
(2)

A

 A f u nc t ional p i tu itar y
a d e noma p roduc es
exc es sive g rowt h
h o rmone s e c ret ion a f ter
c l osure o f e p iphy seal
p l ates
 S p ac e - oc c upying l e s ion

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19
Q

skipped
S p ac e - oc c upying l e s ion
(3)

A

▪ Hypopituitarism
▪ Visual field changes
▪ Headache

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20
Q

skipped
PHYSICAL FINDINGS IN ACROMEGALY
(6)

A

Progressive coarsening of
facial features
Enlarged nose
Mandibular prognathism
Sof t palate hyper trophy
Macroglossia
Growth of distal extremities

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21
Q

DEVELOPMENTAL DISORDERS
CAUSING FACIAL ASYMMETRY
(5)

A

 H e m if ac ial hy perpl asia
 H e m if ac ial a t rophy
 H e m if ac ial m i c ros tom ia ( hy poplas ia)
 C o nd ylar hy p erpl asia
 S e gm ental o d ontomax illar y d y s plasi a - h e mimax illof acial
d y s plas ia

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22
Q

DEVELOPMENTAL DISORDERS CAUSING
FACIAL ASYMMETRY
(3)

A

 H e m i f a c i a l hy p e rp l a s i a
 H e m i f a c i a l a t ro p hy
 H e m i f a c i a l m i c ro s to m i a ( hy p o p l a s i a )

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23
Q

HEMIFACIAL HYPERPLASIA
(FACIAL HEMIHYPERPLASIA )

A

A s y mmet ri c ove rg rowth of one s i d e of t h e f ac e

24
Q

HEMIHYPERPLASIA
(4)

A

 Sp oradic , not h e redi tar y
 T i m ing of p re s e ntation vari able
 M ay i nvolve a l l t i s sues o n a f fec ted s i d e,
i n c luding to ngue, te et h, even m a nd ibular
c a n al
 U n i lateral m a c roglos si a

25
Q

PROGRESSIVE HEMIFACIAL ATROPHY
(ROMBERG SYNDROME)
(2)

A

 A t rophy o f s k i n a n d s o f t
t i s s ues o f o n e s i d e o f t h e
f a c e
 A f fec ts t ri geminal
d e rmatome

26
Q

COURSE OF PROGRESSIVE
HEMIFACIAL ATROPHY
(2)

A

Begins in first two
decades, progresses
for several years, then
stabilizes
Requires only
cosmetic treatment

27
Q

CONDYLAR HYPERPLASIA
(1)

A

CONDYLAR HYPERPLASIA

28
Q

OROFACIAL CLEFTS -
DEVELOPMENT OF THE LIP

A

C l ef t l i p i s d ue to a l a c k o f m e rging b et ween t h e m a x ill ar y
p roces s a n d t h e m e d ial n a s al p roc ess

29
Q

C l ef t L i p w i t h a n d w i t hout C l e f t P a l ate
( C L + / - C P )
(2)

A

▪ Isolated Clef t lip
▪ Clef t lip associated with clef t palate

30
Q

I s olated C l ef t P al ate ( C P )
(1)

A

▪ Less common

31
Q

DISTRIBUTION OF CLEFTS
 –% Cl e f t L i p an d Cl e f t
Pal ate
 –% Cl e f t L i p al o n e
 –% Cl e f t Pal ate al o n e

A

5 0
2 5
2 5

32
Q

COMPLICATIONS OF CLEFT PALATE
(3)

A

 P al at al - p har yngeal i n c ompetenc e
 H y p ernas al s p e ec h
 D e nt al a b normal it ies i n a r e a o f c l ef t

33
Q

skipped
DOUBLE LIP
(CUPID’S BOW)
(3)

A

Redundant fold of
tissue
Congenital and
acquired forms
Ascher Syndrome

34
Q

Ascher Syndrome
(2)

A

▪Blepharochalais
▪Non-toxic thyroid
enlargement

35
Q

COMMISSURAL LIP PITS

A

A blind tract resulting from incomplete
merging between the maxillar y and
mandibular processes

36
Q

PARAMEDIAN LIP PITS
(3)

A

 A b l ind t r a c t r e s ult ing f rom d e fec tive m e rging w i t hin t h e
m a nd ibular p roc ess
 A m a rker fo r c l ef t s y ndromes
 va n d e r Woude s y ndro me

37
Q

skipped
MICROGLOSSIA –
ABNORMALLY SMALL TONGUE
(3)

A

 A g l oss ia – a p l as ia
 M i ld m i c roglos si a - m ay b e d i f ficu lt to d etect a n d m ay g o
u n not ic ed
 S y ndromes w i t h m a nd ibular hy popl asia

38
Q

MACROGLOSSIA –
ENLARGEMENT OF TONGUE
(2)

A

Congential causes
Acquired causes

39
Q

CONGENITAL CAUSES OF
MACROGLOSSIA
(4)

A

 Va s c ular m al form ations –
l y m phangiom a o r h e ma ngioma
 D ow n S y ndrome
 N e urofib rom atos is
 M ult iple E n d ocrine N e oplas ia

40
Q

ACQUIRED CAUSES OF
MACROGLOSSIA
(4)

A

 E d ent ulis m
 M u sc ular hy p er trophy
 A my loidos is
 A c romegaly

41
Q

ANKYLOGLOSSIA – “TONGUE-TIE”

A

 A s h o r t , t h i c k l i n g u a l f r e n u m l i m i t s m ov e m e n t o f t h e to n g u e

42
Q

ERY THEMA MIGRANS ,
BENIGN MIGRATORY GLOSSITIS –
GEOGRAPHIC TONGUE
(3)

A

 E t i o l o g y u n k n ow n
 Re d a r e a s o f e p i t h e l i a l
a t ro p hy w i t h e l eva te d , w h i te ,
s e rp i g i n o us b o r d e r
 A p p e a r a n c e c h a n g e s ove r
t i m e

43
Q

MELKERSSON ROSENTHAL
SYNDROME
(4)

A

A form of orofacial
granulomatosis
1.Fissured tongue
2.Cheilitis
granulomatosa
3.Facial paralysis

44
Q

CENTRAL PAPILLARY ATROPHY
(4)

A

 M e dian rh omboid g l os s itis
 S y mmet ric, e r y t hematous
a r e a o f a t rophy o f f i l liform
p ap il lae o f m i dli ne d o r sal
to ng ue
 N ot a d evelopment al l e s ion
▪ Tuberculum impar
 E r y t hematous c a nd idias is

45
Q

LINGUAL THYROID
(2)

A

Ectopic thyroid tissue in
posterior midline of
tongue
May lack thyroid tissue in
neck

46
Q

THRYOGLOSSAL DUCT CYST
(2)

A

 C y s t ic c h ange o f
t hy rogloss al
t r ac t e p it helium
 M i dline o f n e c k
i n yo u ng p e ople

47
Q

ORAL LYMPHOEPITHELIAL CYST
(3)

A

Cystic change of
cr ypt epithelium of
lymphoid aggregate
Young adults
Floor of mouth

48
Q

CERVICAL LYMPHOEPITHELIAL CYST
(3)

A

 B r anc hial C l ef t C y s t
 C y s t ic c h ange o f b r anc hi al
e p it helium
 U p p er l a teral n e c k a n te rior to
b o rder o f
s te rnoclei domas toi d m u s cle
i n yo ung a d ult s

49
Q

skipped
CERVICAL LYMPHOEPITHELIAL CYST
histology

A

St rat ified s q uamous
e p it helial l i ning
ex h ibit ing l y m phoid
t i s s ue w i t h g e rmin al
c e nter s i n wa l l

50
Q

FORDYCE GRANULES
(2)

A

Ectopic sebaceous
glands
Development
stimulated at puber ty

51
Q

GINGIVAL FIBROMATOSIS
(2)

A

 G e neralized

 L o c al ized

52
Q

GINGIVAL FIBROMATOSIS
 G e neralized
(2)

A

▪ Syndrome-associated
▪ Non-syndrome-
associated – an isolated
entity

53
Q

PEUTZ-JEGHER SYNDROME
(4)

A

 A u t o s o m a l d o m i n a n t
 A s s o c i a t e d w i t h g e n e r a l i z e d
i n c r e a s e d r i s k f o r m a l i g n a n c y
 O r a l a n d p e r i o r a l f r e c k l i n g –
p r e s e n t i n i n f a n c y, f a d e s w i t h
a g e
 G a s t r o i n t e s t i n a l
h a m a r to m a to u s p o l y p s –
i n t u s s u s c e p t i o n

54
Q

PORT WINE STAIN NEVUS
(2)

A

 Va s c ular n ev u s – a
h a mar toma o f
c a p illaries
 N evus f l ammeus

55
Q

STURGE WEBER SYNDROME
(3)

A

 Po r t w i ne n ev us i n
t ri gem inal n e r ve
d i s tribut ion
 E n c ephalo - t rigeminal
a n g iom atos is - a f fect s
t i s s ues o f b r ai n a n d
f a c e
 N ot h e redit ar y

56
Q

skipped
STURGE WEBER SYNDROME
(3)

A

 M e n i n g e al
an g i o mato s i s - t ram -
l i n e c al c i fi c at i o n s
 Co nvul s i ve di s o rde r s
 M e n t al ret arda t i o n

Pathology (23 decks)

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