HEAD & NECK DEVELOPMENTAL DISORDERS Flashcards
C ong e ni tal anomal ies are
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
M al format ion s y nd rome re fe r s to
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 .
Se qu enc e re fe r s to
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
AGNATHIA
(4)
Lethal
Failure of migration of
neural crest
mesenchyme
Aplasia of mandible
Ears fused in midline
MICROGNATHIA
(4)
1.Cleidocranial Dysplasia
2.Craniofacial Dysplasia
3.Mandibulofacial Dysplasia
4.Pierre Robin Sequence
1.Cleidocranial Dysplasia
Marie-Sainton Disease
2.Craniofacial Dysplasia
Crouzon Syndrome
3.Mandibulofacial Dysplasia
Treacher Collins Syndrome
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
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
CLEIDOCRANIAL DYSPLASIA
(4)
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
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 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
RADIOGRAPHIC CHANGES IN
CRANIOFACIAL DYSPLASIA
(2)
I n c rea sed d i git a l m a rki ngs
“Beaten metal” pattern
MANDIBULOFACIAL DYSPLASIA
(MANDIBULOFACIAL DYSOSTOSIS,
TREACHER COLLINS SYNDROME)
(8)
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
PIERRE ROBIN SEQUENCE
(COMPLEX/SYNDROME)
(3)
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
PIERRE ROBIN SEQUENCE
(COMPLEX/SYNDROME)
S e q u e n c e o f e v e n t s :
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
skipped
CLINICAL PROBLEMS IN
PIERRE ROBIN SEQUENCE
(4)
Choking episodes
Feeding dif ficulties
Breathing
dif ficulties
Ear infections
MACROGNATHIA
(1)
A c romegaly
ACROMEGALY
(2)
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
skipped
S p ac e - oc c upying l e s ion
(3)
▪ Hypopituitarism
▪ Visual field changes
▪ Headache
skipped
PHYSICAL FINDINGS IN ACROMEGALY
(6)
Progressive coarsening of
facial features
Enlarged nose
Mandibular prognathism
Sof t palate hyper trophy
Macroglossia
Growth of distal extremities
DEVELOPMENTAL DISORDERS
CAUSING FACIAL ASYMMETRY
(5)
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
DEVELOPMENTAL DISORDERS CAUSING
FACIAL ASYMMETRY
(3)
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 )
HEMIFACIAL HYPERPLASIA
(FACIAL HEMIHYPERPLASIA )
A s y mmet ri c ove rg rowth of one s i d e of t h e f ac e
HEMIHYPERPLASIA
(4)
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
PROGRESSIVE HEMIFACIAL ATROPHY
(ROMBERG SYNDROME)
(2)
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
COURSE OF PROGRESSIVE
HEMIFACIAL ATROPHY
(2)
Begins in first two
decades, progresses
for several years, then
stabilizes
Requires only
cosmetic treatment
CONDYLAR HYPERPLASIA
(1)
CONDYLAR HYPERPLASIA
OROFACIAL CLEFTS -
DEVELOPMENT OF THE LIP
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
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)
▪ Isolated Clef t lip
▪ Clef t lip associated with clef t palate
I s olated C l ef t P al ate ( C P )
(1)
▪ Less common
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
5 0
2 5
2 5
COMPLICATIONS OF CLEFT PALATE
(3)
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
skipped
DOUBLE LIP
(CUPID’S BOW)
(3)
Redundant fold of
tissue
Congenital and
acquired forms
Ascher Syndrome
Ascher Syndrome
(2)
▪Blepharochalais
▪Non-toxic thyroid
enlargement
COMMISSURAL LIP PITS
A blind tract resulting from incomplete
merging between the maxillar y and
mandibular processes
PARAMEDIAN LIP PITS
(3)
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
skipped
MICROGLOSSIA –
ABNORMALLY SMALL TONGUE
(3)
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
MACROGLOSSIA –
ENLARGEMENT OF TONGUE
(2)
Congential causes
Acquired causes
CONGENITAL CAUSES OF
MACROGLOSSIA
(4)
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
ACQUIRED CAUSES OF
MACROGLOSSIA
(4)
E d ent ulis m
M u sc ular hy p er trophy
A my loidos is
A c romegaly
ANKYLOGLOSSIA – “TONGUE-TIE”
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
ERY THEMA MIGRANS ,
BENIGN MIGRATORY GLOSSITIS –
GEOGRAPHIC TONGUE
(3)
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
MELKERSSON ROSENTHAL
SYNDROME
(4)
A form of orofacial
granulomatosis
1.Fissured tongue
2.Cheilitis
granulomatosa
3.Facial paralysis
CENTRAL PAPILLARY ATROPHY
(4)
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
LINGUAL THYROID
(2)
Ectopic thyroid tissue in
posterior midline of
tongue
May lack thyroid tissue in
neck
THRYOGLOSSAL DUCT CYST
(2)
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
ORAL LYMPHOEPITHELIAL CYST
(3)
Cystic change of
cr ypt epithelium of
lymphoid aggregate
Young adults
Floor of mouth
CERVICAL LYMPHOEPITHELIAL CYST
(3)
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
skipped
CERVICAL LYMPHOEPITHELIAL CYST
histology
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
FORDYCE GRANULES
(2)
Ectopic sebaceous
glands
Development
stimulated at puber ty
GINGIVAL FIBROMATOSIS
(2)
G e neralized
L o c al ized
GINGIVAL FIBROMATOSIS
G e neralized
(2)
▪ Syndrome-associated
▪ Non-syndrome-
associated – an isolated
entity
PEUTZ-JEGHER SYNDROME
(4)
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
PORT WINE STAIN NEVUS
(2)
Va s c ular n ev u s – a
h a mar toma o f
c a p illaries
N evus f l ammeus
STURGE WEBER SYNDROME
(3)
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
skipped
STURGE WEBER SYNDROME
(3)
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
