6/15/2016

DukeEmbryologyCraniofacialDevelopment

EmbryologyLearning
Resources
DukeUniversityMedicalSchool
Schedule(w/inGross
Anatomy)

UNSWEmbryology(awesome
site!)

Simbryo
Animations

Searchthiswebsite

DukeAnatomy DukeHistology
HOME
Site
Site

JUMPTOANOTHERPAGE

CraniofacialDevelopment
Suggestedreadingsfrom
Langman'sMedical
Embryology:

11thedCh.9(SkeletalSystem):pp.127134Ch.16(Head&
Neck):pp.265287
12thedCh10.(AxialSkeleton):pp.133141Ch.17(Head&Neck):
pp.260282

DukeLEARNINGRESOURCES

ClickheretolaunchtheSimbryoHead&NeckDevelopmentanimation
(andsomereallytrippymusicyou'llunderstandoncethewindow
opens...)
I.Pharyngealapparatus
pharyngealarchesarepairedstructuresassociatedwiththepharynxthatcontributegreatlytothe
formationoftheface,jaw,ear,andneck
the1stpharyngealarchappearsataboutthebeginningofthe4thweekandothersareaddedmore
caudallylatersuchthatthereareultimately5archesbytheendofthe4thweekthe5tharchfailsto
form,sothearchesarenumbered1,2,3,4,and6.
theentireapparatusconsistsofpairedpharyngealarches,pharyngealpouches,pharyngeal
clefts(orgrooves),andpharyngealmembranes(seediagram).
eachpharyngealarchconsistsofacoreofsomaticmesodermandneuralcrest
mesenchyme
somaticmesodermcontributestothearchartery(i.e.aorticarches16)aswellas
skeletalmuscletissueineacharch
neuralcrestmesenchymedevelopsintobone,cartilage,and/orconnectivetissue
ineacharch.
eachpharyngealarchhasacranialnerveassociatedwithit:
arch1:CNV(trigeminal)
arch2:CNVII(facial)
arch3:CNIX(glossopharyngeal)
arch4:CNX(superiorlaryngealbranchofthevagus)
arch6:CNX(recurrentlaryngealbranchofthevagus)
theinsideofthepharyngealapparatusislinedbyendodermthatformsinfoldingsorpouches
betweenthearchessincethereare5pharyngealarches,thereare4pharyngealpouches,
thefatesofwhicharediscussedbelow.
theoutsideofthepharyngealapparatusiscoveredbyectodermalthatformsouter
pharyngealclefts(orgrooves)aswiththepouches,thereareinitially4pharyngealclefts,the
fatesofwhicharediscussedbelow.

https://web.duke.edu/anatomy/embryology/craniofacial/craniofacial.html

1/18

6/15/2016

DukeEmbryologyCraniofacialDevelopment

A.Fatesofpharyngealclefts
ThepharyngealcleftsareectodermallinedrecessesthatappearontheOUTSIDEofthe
pharnyxbetweenthearchescleft1isbetweenarch1and2,cleft2isbetweenarches2and3,
etc.
1.pharyngealcleft1:developsintotheexternalauditorymeatus(thecorresponding1stpharyngeal
pouchdevelopsintotheauditory(orEustacian)tube,andtheinterveningmembranedevelopsintothe
tympanicmembrane).
Defectsinthedevelopmentofpharyngealcleft1canresultinpreauricular(i.e.infrontofthe
pinnaoftheear)cystsand/orfistulas.
2.pharyngealclefts2,3,and4areovergrownbyexpansionofthe2ndpharyngealarchandusually
obliterated
Remnantsofpharyngealclefts24canappearintheformofcervicalcystsorfistulasfound
alongtheanteriorborderofthesternocleidomastoidmuscle.

https://web.duke.edu/anatomy/embryology/craniofacial/craniofacial.html

2/18

6/15/2016

DukeEmbryologyCraniofacialDevelopment

B.Fatesofpharyngealarches
1.PharyngealArch1(mandibulararch)
associatedwiththe1staorticarch,whichdevelopsintopartofthemaxillaryartery
innervatedbyCNV(trigeminalnerve)
splitsintoanuppermaxillaryprominenceandalowermandibularprominence
derivativesofthe1starchare:

2.PharyngealArch2(hyoidarch)
associatedwiththe2ndaorticarch,whichdevelopsintothestapedialartery
innervatedbyCNVII(facialnerve)
derivativesofthe2ndarchare:

https://web.duke.edu/anatomy/embryology/craniofacial/craniofacial.html

3/18

6/15/2016

DukeEmbryologyCraniofacialDevelopment

3.PharyngealArch3
associatedwithaorticarch3,whichcontributestothecommoncarotidarteryandproximal
segmentoftheinternalcarotidartery
innervatedbyCNIX(glossopharyngealnerve)
derivativesofthe3rdarchare:

4.PharyngealArch4
associatedwithaorticarch4,whichcontributestotheproximalsegmentoftherightsubclavian
arteryandthearchoftheaorta
innervatedbyCNX(superiorlaryngealbranchofthevagusnerve)
derivativesofthe4tharchare:

5.PharyngealArch6
associatedwithaorticarch6,whichcontributestotheproximalsegmentsofthepulmonary
arteriesandductusarteriosus(whichbecomestheligamentumarteriosumintheadult)
innervatedbyCNX(recurrentlaryngealbranchofthevagusnerve)
derivativesofthe6tharchare:

https://web.duke.edu/anatomy/embryology/craniofacial/craniofacial.html

4/18

6/15/2016

DukeEmbryologyCraniofacialDevelopment

Thefatesofthepharyngealarchesandtheirderivativestructurescanbesummarizedbythetwofigures
below:

https://web.duke.edu/anatomy/embryology/craniofacial/craniofacial.html

5/18

6/15/2016

DukeEmbryologyCraniofacialDevelopment

C.Fatesofpharyngealpouches
ThepharyngealpouchesareendodermallinedpocketsthatformontheINSIDEofthepharynx
betweenthearchespouch1formsbetweenarch1andarch2,pouch2formsbetweenarch2
andarch3,etc.

https://web.duke.edu/anatomy/embryology/craniofacial/craniofacial.html

6/18

6/15/2016

DukeEmbryologyCraniofacialDevelopment

1.PharyngealPouch1developsintotheauditorytubeandmiddleearcavity
2.PharyngealPouch2formsnumerousinfoldingsthatbecomethecryptsofthepalatinetonsillater,
lymphocytes(fromthethymusandbonemarrow)infiltratetheunderlyinglaminapropriatoestablishthe
definitivepalatinetonsil.
3.PharyngealPouch3dividesintoasuperior(ordorsal)andinferior(orventral)portion:
dorsalportionofpouch3:formstheinferiorparathyroidglandsthechief(orprincipal)
andoxyphilcellsarederivedfromtheendodermalliningofthepouch

ventralportionofpouch3:formsthethymustheepithelialreticularcells(includingthose
thatcomprisethethymicorHassall'scorpuscles)arederivedfromtheendodermalliningofthe
pouch.Tcellprogenitorsfromthebonemarrowinfiltratethecortextoestablishthedefinitive
thymus.
4.PharyngealPouch4alsodividesintoasuperior(ordorsal)andinferior(orventral)portion:
dorsalportionofpouch4:formsthesuperiorparathyroidglandsthechief(orprincipal)
andoxyphilcellsarederivedfromtheendodermalliningofthepouch
ventralportionofpouch4:formsadiverticulumcalledtheultimobranchialbody,which
releasessignalingfactorstoinducethemigrationanddifferentiationofnearbyneuralcrest
cellsintoparafollicular(C)cellsofthethyroidgland.
Anomalousdevelopmentofthederivativesofpouches3and/or4canresultinectopicorabsentparathyroid,
thymic,orparafollicularthyroidtissue.ThemostcommondisorderinwhichthisoccursisDiGeorge
syndrome,causedbyadeletioninthelong(or"q")armofchromosome22,leadingtoahypoplasiaof3rd
and4thpharyngealpouchderivatives.SymptomsandsignsofDiGeorgeofteninclude:
hypoplasiaofthehyoid
thymichypoplasia(immunodeficiencyduetoalackofTcells)
hypoparathyroidism(missingorhypoplasticinferiorparathyroidglands)
outflowtractdefects(neuralcrestinthisareaalsocontributestoconotruncalcushionsoftheoutflow
tract)
Interestingly,thehypoplasiaofthe3rdand4tharchescanalsodisruptthe1stand2ndarches,
leadingtothefollowingadditionalfindings:
micrognathia(reducedjaw)
cleftpalate
hearingloss
https://web.duke.edu/anatomy/embryology/craniofacial/craniofacial.html

7/18

6/15/2016

DukeEmbryologyCraniofacialDevelopment

II.Developmentofthetongue
A.Anterior2/3ofthetongue:
1.Formation:theanterior2/3ofthetongueisderivedfrommedianandlateraltonguebudsthatarise
fromthefloorofthe1stpharyngealarchandthengrowrostrally.Thetonguebudsaretheninvadedby
occipitalmyoblaststhatformtheintrinsicmusclesofthetongue.
2.Innervationoftheanterior2/3ofthetongue:
sensoryinnervationofthemucosaisviathelingualbranchofthetrigeminalnerve
tasteinnervationisviathechordatympanibranchofthefacialnerve,exceptforthetastebuds
inanycircumvallatepapillathatmaybepresentintheposteriormostpartoftheanterior2/3ofthe
tonguetheseareinnervatedbytheglossopharyngealnerve.
motorinnervationoftheintrinsicskeletalmusclesisviathehypoglossalnerve

B.Posterior1/3ofthetongue:
1.Formation:swellingsfromthefloorofthe3rdand4thpharyngealarchesovergrowthe2ndarchandfuse
withtheanterior2/3ofthetongue.Thus,theposterior1/3ofthetongueisderivedfromthe3rdand
4tharchesandthereisNOcontributionofthe2ndpharyngealarchintheadulttongue.Intrinsic
musculatureisalsoderivedfromoccipitalmyoblasts.Thelineoffusionoftheanterior2/3andposterior1/3of
thetongueisindicatedbytheterminalsulcus.
2.Innervationoftheposterior1/3ofthetongue:
sensoryinnervationofthemucosaismostlyviatheglossopharyngealnerve(andsomevagus)
tasteinnervationismostlyviatheglossopharyngealnerve(andsomevagus)
motorinnervationoftheintrinsicskeletalmusclesisviathehypoglossalnerve

https://web.duke.edu/anatomy/embryology/craniofacial/craniofacial.html

8/18

6/15/2016

DukeEmbryologyCraniofacialDevelopment

III.Developmentofthethyroidgland
isNOTderivedfromanyofthepharyngealpouches
arisesfromamidlinethyroiddiverticulumthatformsfromtheendoderminthefloorofthe
pharynxjustcaudaltothe1stpharyngealarchtheseendodermcellsdifferentiateintothefollicular
cellsofthethyroidgland.
neuralcrestcellsoftheultimobranchialbodymigrateintotheglandandgiverisetothe
parafollicularcells(akaCcells)ofthethyroid.
withdifferentialgrowthoftheembryo,thediverticulumelongates,butremainsconnectedtothe
formingtonguebyathyroglossalductthatlaterisobliteratedthesiteoftheopeningofthe
thyroglossalductistheforamencecumfoundinthemidlineattheterminalsulcusofthetongue.

Anomaliesinthyroiddevelopmentcanresultinectopicthyroidtissueand/orcystspresentalongthe
courseofthethyroglossalduct,whichisamidlinestructure(asopposedtocervicalcysts,whichare
remnantsofpharyngealclefts24andarefoundlateraltothesternocleidomastoidmuscles).

https://web.duke.edu/anatomy/embryology/craniofacial/craniofacial.html

9/18

6/15/2016

DukeEmbryologyCraniofacialDevelopment

IV.Developmentoftheskull
anteriorportions(viscerocranium)arederivedprimarilyfromneuralcrestmesenchymethatdevelop
intobonesviamembranousossification
bonesinthefloorsofthecranialfossae,akathe"chondrocranium"(cribriformplate,sphenoid,petrous
temporalandclivusoftheoccipital),arederivedfromparaxial(somitic)mesodermthatdevelop
boneviaendochondralossification
flatbonesofthecranialvault,akathe"neurocranium"(e.g.parietalandposterioroccipital),arederived
fromparaxial(somitic)mesodermthatdevelopsintoboneviamembranousossification.
thehyoidboneisderivedfromneuralcrestassociatedwithpharyngealarchesIIandIII.
thelaryngealcartilagesarederivedfromneuralcrestassociatedwithpharyngealarchesIVandVI.
thebonesoftheskulldonotfusetogetheruntilafterbirth(toallowcrowningoftheheadduring
deliveryandgrowthofthebrainpostnatally),leavingsuturesandfontanellesthattypicallycloseat
varioustimespostnatally:
theconfluenceofthelambdoidandsagittalsuturesatthebackoftheskullmarksthesite
oftheposteriorfontanelle,whichtypicallyclosesataround36monthspostnatally
theconfluenceofthesagittal,coronal,andfrontalsuturesatthetop,frontoftheskull
marksthesiteoftheanteriorfontanelle,whichtypicallyclosesby1.52yearspostnatally.

Becausethebraincontinuestogrowinsizeupuntil67yearsofage,prematurefusionofthesuturesor
fontanelleswillresultinabnormalshapingoftheheadasthebrainwillcausedisplacementofthebonesthat
remainunfused.

V.Developmentoftheface
initiallyformedby5mesenchymalswellings(akaprocessesorprominences):
2mandibularprominences(rightandleft,from1starchneuralcrestmesenchyme)
2maxillaryprominences(rightandleft,from1starchneuralcrestmesenchyme)
frontonasalprominence(midlinestructure,fromcranialneuralcrestmesenchyme)
twonasalpitsdevelopintheventrolateralaspectsofthefrontonasalprominences,therebyforming2
lateralandmedialnasalprominences
developmentofthefaceoccursviathegrowthandfusionoftheseprominences:
themandibularprominencesgrowtogethertoformasinglemandible
Themaxillaryprominences(showninorangebelow)growtowardthemidlineandfusewith
thelateralnasalprominences(blue).Adeepgroovecalledthenasolacrimalgrooveforms
betweenthemaxillaryandlateralnasalprominencesoneithersideofthedevelopingnose.Most
ofthegrooveisobliteratedwithfusionofthemaxillaryandlateralnasalprominences,buta
smallportionpersistsasthenasolacrimalductandlacrimalsac.
Inwardgrowthofthemaxillaryprominencesalsocausesthemtofusewiththemedialnasal
prominences(yellow).Continuedgrowthofthemaxillaryprominencescombinedwith
regressionofthefrontonasalprominencepushesthetwomedialnasalprominences
togethersuchthemedialprominenceseventuallyfusetoformthemidlineofthenoseand
philtrumoftheupperlipthesuperiorportionofthefrontonasalprominencegrowsand
https://web.duke.edu/anatomy/embryology/craniofacial/craniofacial.html

10/18

6/15/2016

DukeEmbryologyCraniofacialDevelopment

extendstoformtheforeheadwhereastheinferiorportiondoesnotgrowverymuch,thus
allowingthemedialnasalprocessestofuseinthemidline.

Belowisasummaryofthecontributionsoftheprominencestotheadultface:

Disruptionofthedevelopmentofanyofthefacialprominencescanresultinavarietyoffacialanomalies,such
as(fromlefttorightinfiguresbelow):
harelip(bilateralfailureofmaxillaryandmedialnasalprominencestofuse)
obliquefacialcleft(unilateralfailureofmaxillary,medial,andlateralnasalprominencestofuse)
macrostoma(incompletelateralmergingofmaxillaryandmandibularprocesses)
mediancleftlip(incompletefusionofmedialnasalprominences)
frontonasaldysplasia(hyperplasiaofinferiorfrontonasalprominence,thuspreventingfusionofthe
medialnasalprominences)

https://web.duke.edu/anatomy/embryology/craniofacial/craniofacial.html

11/18

6/15/2016

DukeEmbryologyCraniofacialDevelopment

VI.Developmentofthepalate
A.Primarypalate
formsviathefusionofthetwomedialnasalprominencesinthemidline(ofcourse,thismidlinefusion
isdrivenviagrowthofthemaxillaryprominenceswhichpushesthenasalprominencestowardtothe
middle)
consistsofthepremaxillarysegmentofthemaxilla,whichcontainsthefourincisorsandtheincisive
canal

B.Secondarypalate
formsviaoutgrowthsofthemaxillaryprominencescalledthepalatineshelves
initially,thepalatineshelvesprojectoneithersideofthetongue.Withgrowthandexpansionofthe
mandiblethetonguemovesdown,allowingthepalatineshelvestogrowtowardthemidlineandfuseto
formthesecondarypalate,whichconsistsofthepalatinesegmentofthemaxillaandpalatinebone.
Disruptionofgrowthofthetongueand/ormandiblecanthereforesecondarilycauseacleft
secondarypalate.

https://web.duke.edu/anatomy/embryology/craniofacial/craniofacial.html

12/18

6/15/2016

DukeEmbryologyCraniofacialDevelopment

Completefusionoftheprimaryandsecondarypalateisacomplexprocessinvolvinggrowthofthecomponent
tissues,epithelialtomesenchymaltransformation,cellmigration,andprogrammedcelldeathatfusionsites
disruptionofanypartofthisprocesscanresultincleftpalate.Giventheinvolvementofthemaxillaryand
nasalprominences,cleftpalateisoften(butNOTalways)accompaniedbycleftlip.

PracticeQuestions
1.Incraniofacialdevelopment,paraxialmesodermcontributestowhichofthefollowing?
A.occipitalbone
B.musclesofthetongue
C.extraocularmuscles
D.NONEoftheabove
E.ALLoftheabove
ANSWER

2.Thecraniofacialdefectillustratedinthefigurebelowwasmostlikelycausedbywhichofthefollowing?

https://web.duke.edu/anatomy/embryology/craniofacial/craniofacial.html

13/18

6/15/2016

DukeEmbryologyCraniofacialDevelopment

A.prematurefusionofthesaggitalcranialsuture
B.prematurefusionofthecoronalcranialsuture
C.overgrowthofthefrontonasalprocess
D.incompletefusionofthefrontonasalandmaxillaryprocesses
E.incompletemigrationand/ordifferentiationofcranialneuralcrestcells
ANSWER

3.Theconditionshowninthefigurebelowwasmostlikelycausedby:

A.failureofthemedialandlateralnasalprocessestofusewiththemaxillaryprocess.
B.incompletemergingofthemaxillaryandmandibularprocesses.
https://web.duke.edu/anatomy/embryology/craniofacial/craniofacial.html

14/18

6/15/2016

DukeEmbryologyCraniofacialDevelopment

C.incompletefusionofthemedialnasalprocesses.
D.overgrowthofthefrontonasalprocess.
E.incompletegrowthofthemandibularprocess.
ANSWER

4.Thethyroidglandisderivedprimarilyfromthe:
A.1stpharyngealpouch.
B.2ndpharngealpouch.
C.ventralportionofthe3rdpharyngealpouch.
D.dorsalportionofthe4thpharyngealpouch.
E.foramencecumatthebaseofthetongue.
ANSWER

5.WhichofthefollowingclinicalfindingsisobservedmorefrequentlyinassociationwithDiGeorgesyndrome
butnotusuallyinTreacherCollinssyndrome?
A.Tcellleukopenia
B.Bcellleukopenia.
C.pharyngealand/orpalatalabnormalities.
D.facialabnormalities.
E.externalearabnormalities.
ANSWER

6.ChromosomalanalysisofapatientwithDiGeorgesyndromewouldlikelyshowwhichofthefollowing?
A.trisomy21
B.46,XO
C.deletionof22q
D.deletionof11q
E.duplicationof17p
ANSWER

Questions710refertothelistbelow.Selectthemostappropriatestructureinthelistforeachofthe
followingstatementsordescriptions(eachlabeledstructuremaybeusedonce,morethanonce,in
combinationwithotherstructures,ornotatall).IfastatementordescriptionreferstoastructureNOTin
thelistthenthecorrectanswerwouldbe"NONEoftheabove."
A)pharyngealarch1
B)pharyngealarch2
C)pharyngealarch3
D)pharyngealarch4
E)pharyngealarch5
F)pharyngealarch6
7.givesrisetothestapes

https://web.duke.edu/anatomy/embryology/craniofacial/craniofacial.html

15/18

6/15/2016

DukeEmbryologyCraniofacialDevelopment

ANSWER

8.givesrisetothemandible
ANSWER

9.itsderivativesareinnervatedbycranialnerveIII
ANSWER

10.itsderivativesareinnervatedbythehypoglossalnerve
ANSWER

Questions1114refertothediagrambelow.Selectthemostappropriatestructureinthelistforeachofthe
followingstatementsordescriptions(eachlabeledstructuremaybeusedonce,morethanonce,in
combinationwithotherstructures,ornotatall).IfastatementordescriptionreferstoastructureNOTin
thelistthenthecorrectanswerwouldbe"NONEoftheabove."

11.innervatedbythefacialnerve
ANSWER

12.innervatedbythevagusnerve
ANSWER

13.innervatedbycranialnerveVIII
ANSWER

https://web.duke.edu/anatomy/embryology/craniofacial/craniofacial.html

16/18

6/15/2016

DukeEmbryologyCraniofacialDevelopment

14.innervatedbycranialnerveV
ANSWER

Questions1517arebasedontheimagebelowshowingan8yearoldfemaleandher6yearoldbrother.

15.Basedontheappearanceofthesetwosiblings,whichpharyngealarchappearstobemostaffected?
A.pharyngealarch1
B.pharyngealarch2
C.pharyngealarch3
D.pharyngealarch4
E.pharyngealarch6
ANSWER

16.Craniofacialsyndromesoftenaffectmorethanonepharyngealarch.Whichofthefollowingclinicalfindings
wouldindicatetheinvolvementofpharyngealarch2inthisparticularcase?
A.absenceofthemalleus(asdeterminedbyradiography)
B.hypoplasiaofthehyoid(asdeterminedbyradiography)
C.hypocalcemia
D.immunodeficiency
E.hypothyroidism
ANSWER

17.Whichofthefollowingcouldyouexpecttofinduponfurtherexamination?
A.palatalabnormalities
B.maxillaryabnormalities
C.hearingloss
D.NONEoftheabove
E.ALLoftheabove
ANSWER

Clickheretosubmitquestionsorcommentsaboutthissite.
DukeUniversity|DukeMedicine|SchoolofMedicine|SchoolofNursing|DoctorofPhysicalTherapy
Copyright20042011DukeUniversitySchoolofMedicine
https://web.duke.edu/anatomy/embryology/craniofacial/craniofacial.html

17/18

6/15/2016

DukeEmbryologyCraniofacialDevelopment

Updated12/6/11Velkey

https://web.duke.edu/anatomy/embryology/craniofacial/craniofacial.html

18/18