HEAD & NECK DEVELOPMENTAL DISORDERS Flashcards by sophie rosen

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

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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 .

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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

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AGNATHIA
(4)

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

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MICROGNATHIA
(4)

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

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1.Cleidocranial Dysplasia

Marie-Sainton Disease

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2.Craniofacial Dysplasia

Crouzon Syndrome

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3.Mandibulofacial Dysplasia

Treacher Collins Syndrome

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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

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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

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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

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RADIOGRAPHIC CHANGES IN
CRANIOFACIAL DYSPLASIA
(2)

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

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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

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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

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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

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skipped
CLINICAL PROBLEMS IN
PIERRE ROBIN SEQUENCE
(4)

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

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MACROGNATHIA
(1)

A c romegaly

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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

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

▪ Hypopituitarism
▪ Visual field changes
▪ Headache

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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

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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

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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 )

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HEMIFACIAL HYPERPLASIA
(FACIAL HEMIHYPERPLASIA )

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

HEMIHYPERPLASIA
(4)

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 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

HEAD & NECK DEVELOPMENTAL DISORDERS Flashcards

(56 cards)