2nd arch syndromes / dental courses

SyndromeS aSSociate withSyndromeS aSSociate with
Second Pharyngeal archSecond Pharyngeal arch
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CONTENTSCONTENTS
DEVELOPMENTDEVELOPMENT
MOLECULAR REGULATIONMOLECULAR REGULATION
DERIVATIVESDERIVATIVES
SYNDROMESSYNDROMES

Morula

Blastocyst

 Endodermal wall of the foregut isEndodermal wall of the foregut is
separated from the surface Ectoderm by aseparated from the surface Ectoderm by a
layer of mesodermlayer of mesoderm
 Mesoderm arranged in the form ofMesoderm arranged in the form of 6 bars6 bars
 RunsRuns Dorso -VentrallyDorso -Ventrally in the side wall ofin the side wall of
the foregutthe foregut
 Each of these bars grows ventrallyEach of these bars grows ventrally
 Fuse with the corresponding bar of theFuse with the corresponding bar of the
opposite side to form aopposite side to form a Pharyngeal arch.Pharyngeal arch.

 Interval between any adjoining arches, theInterval between any adjoining arches, the
endoderm extends outwards in the form ofendoderm extends outwards in the form of
Pharyngeal pouch or Endodermal pouchPharyngeal pouch or Endodermal pouch
 These pouch to meet the ectoderm which dipsThese pouch to meet the ectoderm which dips
into this interval as aninto this interval as an Ectodermal CleftEctodermal Cleft
 11stst
& 2& 2ndnd
arch appear on thearch appear on the 22 day22 day
 By theBy the 2929thth
dayday four arches can be seen.four arches can be seen.
 55thth
arch disappearsarch disappears soon after its formation.soon after its formation.

EctodermEctoderm
(forming all nerve and some epithelial tissue)(forming all nerve and some epithelial tissue)
MesodermMesoderm
(forming all connective, muscle and some(forming all connective, muscle and some
epithelial tissue)epithelial tissue)
EndodermEndoderm
(forming some epithelial tissue)(forming some epithelial tissue)

Formed from the mesodermFormed from the mesoderm
Skeletal elementsSkeletal elements
Striated musclesStriated muscles
Arterial archArterial arch
NervesNerves

Molecular RegulationMolecular Regulation
 Most of the face –Most of the face – Neural crest cellsNeural crest cells
 Migrate in to the pharyngeal arches from theMigrate in to the pharyngeal arches from the
edges of the cranial neural foldsedges of the cranial neural folds
 Patterning of the pharyngeal arches appear toPatterning of the pharyngeal arches appear to
be regulated bybe regulated by HOX genesHOX genes carried to thecarried to the
arches by the migrating neural crest.arches by the migrating neural crest.
 Rhombomere - subdivision of hindbrainRhombomere - subdivision of hindbrain
 Each Rhombomere has its own HOX codeEach Rhombomere has its own HOX code
R1 & R2 migrate to the 1R1 & R2 migrate to the 1stst
archarch
R4 migrate to the 2R4 migrate to the 2ndnd
archarch
R6 & R7 migrate to the 3R6 & R7 migrate to the 3rdrd
archarch
R8 migrate to the 4 & 6 archR8 migrate to the 4 & 6 arch

 NCCs in each Rhombomere migrate toNCCs in each Rhombomere migrate to
brachial arches with compatible HOX codebrachial arches with compatible HOX code
 RetinoidRetinoid can also regulate HOX genecan also regulate HOX gene
expressionexpression
 Retinoic acid Response elementsRetinoic acid Response elements
(RAREs).(RAREs).
 Binding site for Retinoic acid in theBinding site for Retinoic acid in the
promoter region of the HOX genepromoter region of the HOX gene

 Deficiencies or Excess of retinoidDeficiencies or Excess of retinoid
 Disrupt migration and axial identity of hindDisrupt migration and axial identity of hind
brain crest cells.brain crest cells.
 Resulting severeResulting severe Craniofacial defects.Craniofacial defects.
 OTX2 gene, MSX-2 genesOTX2 gene, MSX-2 genes participate theparticipate the
morphogenesis of the pharyngeal arch.morphogenesis of the pharyngeal arch.

Derivatives of the 2Derivatives of the 2ndnd
Branchial ArchBranchial Arch
 Hyoid (Reichert cartilage)Hyoid (Reichert cartilage)
NerveNerve
 Cranial nerve VII (Facial nerve)Cranial nerve VII (Facial nerve)
ArteryArtery
 StapedialStapedial

 MusclesMuscles
Muscles of faceMuscles of face
BuccinatorBuccinator
Posterior belly of digastricPosterior belly of digastric
Stylohyoid muscleStylohyoid muscle
Stapedius muscleStapedius muscle

 Skeletal componentsSkeletal components
Manubrium of malleusManubrium of malleus
Long process incusLong process incus
Stapes (except for footplate)Stapes (except for footplate)
Facial canalFacial canal
Styloid processStyloid process
Stylohyoid ligamentStylohyoid ligament
Lesser cornu of hyoidLesser cornu of hyoid
Upper body of hyoidUpper body of hyoid

Developmental SyndromesDevelopmental Syndromes
Associated With Facial NerveAssociated With Facial Nerve
AbnormalitiesAbnormalities

 Hemifacial microsomia (HFM)Hemifacial microsomia (HFM)
 Craniofacial microsomiaCraniofacial microsomia
 11stst
& 2& 2ndnd
pharyngeal arch syndromepharyngeal arch syndrome
 Goldenhar syndromeGoldenhar syndrome
 Lateral facial dysplasiaLateral facial dysplasia
 Facio- auriculovertebral syndromeFacio- auriculovertebral syndrome
 Oculo- auriculovertebral syndromeOculo- auriculovertebral syndrome

Hemifacial microsomiaHemifacial microsomia
 Soft tissue and Bone from the pharyngealSoft tissue and Bone from the pharyngeal
arches on one side of a child's face fails toarches on one side of a child's face fails to
develop fully.develop fully.
 Occurs in about one in 5,600 births.Occurs in about one in 5,600 births.
 UnilateralUnilateral underdevelopmentunderdevelopment of the eye,of the eye,
cheekbone, lower jaw, facial nerve andcheekbone, lower jaw, facial nerve and
muscles.muscles.
 Hearing loss from underdevelopment ofHearing loss from underdevelopment of
the middle ear.the middle ear.

 Soft PalateSoft Palate move to the unaffected sidemove to the unaffected side
because of muscle weakness on thebecause of muscle weakness on the
affected side.affected side.
 Tongue -Tongue - small with nerve weakness onsmall with nerve weakness on
the affected side.the affected side.
 NerveNerve responsible for moving the facialresponsible for moving the facial
muscles is weak on the affected side.muscles is weak on the affected side.
 MacrostomiaMacrostomia because of an opening atbecause of an opening at
the corner of the mouth.the corner of the mouth.

 Unilateral Microtia and AtresiaUnilateral Microtia and Atresia
 Facial paralysisFacial paralysis
 Failure of mandibular Ramus and CondyleFailure of mandibular Ramus and Condyle
 Facial asymmetryFacial asymmetry
 About 15 percent of children withAbout 15 percent of children with
Hemifacial microsomia have a cleft lip orHemifacial microsomia have a cleft lip or
palatepalate

DiGeorge syndromeDiGeorge syndrome
 Facial paralysis reportedFacial paralysis reported
 Multiple anomalies of craniofacial,Multiple anomalies of craniofacial,
cardiovascular, and visceral structures.cardiovascular, and visceral structures.
 Absent and/or Hypoplastic thymusAbsent and/or Hypoplastic thymus
 Abnormal Parathyroid glands developmentAbnormal Parathyroid glands development

Melkersson - Rosenthal syndromeMelkersson - Rosenthal syndrome
((Cheilitis Granulomatosa)Cheilitis Granulomatosa)
 Recurrent alternating facial paralysisRecurrent alternating facial paralysis
 Non tender Edema of lips, face, and eyelidsNon tender Edema of lips, face, and eyelids
 Enlarged lip appears cracked and fissured withEnlarged lip appears cracked and fissured with
reddish brown discoloration.reddish brown discoloration.
 Regional lymph nodes are enlargedRegional lymph nodes are enlarged
 Lose the sense of tasteLose the sense of taste
 Decreased salivary gland secretionDecreased salivary gland secretion

 CheilitisCheilitis
 Fissured tongueFissured tongue
 Normal lip architecture is eventuallyNormal lip architecture is eventually
altered by the presence of lymph edemaaltered by the presence of lymph edema
and noncaseating granulomas in theand noncaseating granulomas in the
lamina propria.lamina propria.

Mobius syndromeMobius syndrome
(Congenital Facial Diplegia)(Congenital Facial Diplegia)
 Rare congenital Developmental disorder.Rare congenital Developmental disorder.
 Paralysis of the 6th and 7th cranial nervesParalysis of the 6th and 7th cranial nerves
 Bilateral facial paralysisBilateral facial paralysis
 Masklike faciesMasklike facies
 Weakness or complete paralysis of the FacialWeakness or complete paralysis of the Facial
muscles.muscles.
 Lack of facial expressionLack of facial expression
 Lack of lateral eye movementLack of lateral eye movement
 Lack of blinking.Lack of blinking.

 Unable to smile, frown, raise theirUnable to smile, frown, raise their
eyebrows, close their eyelids or puckereyebrows, close their eyelids or pucker
their lips.their lips.
 Drooling and difficulty with speech.Drooling and difficulty with speech.
 Infants can have difficulty with suckingInfants can have difficulty with sucking
and swallowing.and swallowing.
 Unilateral or bilateral abducens paralysisUnilateral or bilateral abducens paralysis
 Deformities of extremitiesDeformities of extremities
 Aplasia of brachial and thoracic musclesAplasia of brachial and thoracic muscles

Ramsay Hunt SyndromeRamsay Hunt Syndrome
 Zoster infection of geniculate ganglionZoster infection of geniculate ganglion
 Involvement of external ear& oral mucosaInvolvement of external ear& oral mucosa
 Pain of external auditory meatus andPain of external auditory meatus and
pinna of the earpinna of the ear
 Vesicular eruptions in the oral cavity andVesicular eruptions in the oral cavity and
OropharynxOropharynx
 Hoarseness, Tinnitus, and VertigoHoarseness, Tinnitus, and Vertigo..

Von Recklinghausen neurofibromatosisVon Recklinghausen neurofibromatosis
 Facial paralysis possible from a neurofibroma ofFacial paralysis possible from a neurofibroma of
the facial nervethe facial nerve
 Secondary to encroachment by an acousticSecondary to encroachment by an acoustic
schwannomaschwannoma
 Autosomal dominantAutosomal dominant
 Multiple skin tumorsMultiple skin tumors
 Cutaneous pigmentation (cafe-au-lait spots)Cutaneous pigmentation (cafe-au-lait spots)
 Incidence of 1 in 2000Incidence of 1 in 2000
 Malignant degeneration in 3-12%Malignant degeneration in 3-12%

Hereditary acoustic neuromasHereditary acoustic neuromas
 Facial paresis and/or palsyFacial paresis and/or palsy
 Manifests in third decadeManifests in third decade
 Symptoms secondary to tumorSymptoms secondary to tumor
encroachment on nervesencroachment on nerves

OsteopetrosisOsteopetrosis
 "Marble bone disease“"Marble bone disease“
 Uncommon genetic disorderUncommon genetic disorder
 Characterized by increasing skeletalCharacterized by increasing skeletal
densitydensity
 Acute and recurringAcute and recurring

 Benign and MalignantBenign and Malignant
 Benign form is autosomal dominantBenign form is autosomal dominant
 Not commonly associated with facial paralysis.Not commonly associated with facial paralysis.
 Malignant form is autosomal recessiveMalignant form is autosomal recessive
( Albers-Schönberg disease)( Albers-Schönberg disease)
 Associated with facial paralysis, deafness,Associated with facial paralysis, deafness,
blindness, and abnormal ear and mastoid.blindness, and abnormal ear and mastoid.
 Death often results at a young age due toDeath often results at a young age due to
infection.infection.

SclerostenosisSclerostenosis
 Facial paralysis possibly apparent at birthFacial paralysis possibly apparent at birth
Often appears early in childhoodOften appears early in childhood
 Generally unilateral, eventually becoming bilateralGenerally unilateral, eventually becoming bilateral
 Autosomal recessiveAutosomal recessive
 Generalized osteosclerosisGeneralized osteosclerosis
 Hyperostosis of mandible, calvaria, pelvis, and claviclesHyperostosis of mandible, calvaria, pelvis, and clavicles
 Hearing loss usually bilateral, may be conductive,Hearing loss usually bilateral, may be conductive,
sensorineural, or mixed.sensorineural, or mixed.

Dominant Craniometaphyseal DysplasiaDominant Craniometaphyseal Dysplasia
 Unilateral or bilateral facial paralysisUnilateral or bilateral facial paralysis
 Metaphyseal widening of limbsMetaphyseal widening of limbs
 Bony overgrowth of facial bones and skullBony overgrowth of facial bones and skull
 Obliteration of mastoid air cellsObliteration of mastoid air cells
 Conductive and sensorineural hearingConductive and sensorineural hearing
lossloss
Manifest in early infancy or childhoodManifest in early infancy or childhoodwww.indiandentalacademy.comwww.indiandentalacademy.com

Recessive Cranio Metaphyseal DysplasiaRecessive Cranio Metaphyseal Dysplasia
 Unilateral facial paralysisUnilateral facial paralysis
 Autosomal recessive bone diseaseAutosomal recessive bone disease
 Glabella and paranasal prominenceGlabella and paranasal prominence
 Severe mandibular prognathismSevere mandibular prognathism
 Nasal obstruction (complete)Nasal obstruction (complete)
 Ocular hypertelorismOcular hypertelorism
 Progressive visual disturbance and blindnessProgressive visual disturbance and blindness
 Severe hearing lossSevere hearing loss

Treacher Collins syndrome.Treacher Collins syndrome.
(Mandibulofacial dysostosis, or MFD)(Mandibulofacial dysostosis, or MFD)
 It is named after Edward Treacher CollinsIt is named after Edward Treacher Collins
ophthalmologist who described its essentialophthalmologist who described its essential
traits in 1900.traits in 1900.
 is a rare genetic disorder characterized byis a rare genetic disorder characterized by
craniofacial deformities.craniofacial deformities.
 1 in 20,000 births.1 in 20,000 births.
 Failure of differentiation of maxillary mesodermFailure of differentiation of maxillary mesoderm
at and after the 50mm stage of the embryo.at and after the 50mm stage of the embryo.

Cause autosomal dominant gene.Cause autosomal dominant gene.
Males and Females are equally affectedMales and Females are equally affected
Gene – Chromosome 5q32-q33.1Gene – Chromosome 5q32-q33.1
C/F :C/F :
 Malar Hypoplasia.Malar Hypoplasia.
 Down Slanting palpebral fissures.Down Slanting palpebral fissures.
 Defects of lower eyelids.Defects of lower eyelids.
 Deformed external ears.Deformed external ears.
 Abnormality of middle and internal ears.Abnormality of middle and internal ears.
characterized by absent, small, or unusuallycharacterized by absent, small, or unusually
formed ears (pinnae), called Microtia.formed ears (pinnae), called Microtia.

 Defects in theDefects in the Middle EarMiddle Ear cause hearingcause hearing
loss in about half of cases.loss in about half of cases.
 They usually have normal intelligenceThey usually have normal intelligence
 Underdeveloped structures on each sideUnderdeveloped structures on each side
of the faceof the face
 Not have weakness of the facial muscles.Not have weakness of the facial muscles.
 Notching (Notching (colobomascolobomas) of the lower eyelids) of the lower eyelids
 Underdevelopment of the bones of theUnderdevelopment of the bones of the
face, zygomas, mandible, maxilla.face, zygomas, mandible, maxilla.

 MacrostomiaMacrostomia
 High palateHigh palate
 Abnormal position & Malocclusion teethAbnormal position & Malocclusion teeth
 Blind fistulas between the angles of theBlind fistulas between the angles of the
ears and the angles of the mouthears and the angles of the mouth
 Face is described as Bird like or Fish likeFace is described as Bird like or Fish like
in nature.in nature.

Roentgenographic FeaturesRoentgenographic Features
 Bodies of both malar bones tend to beBodies of both malar bones tend to be
grossly and symmetricallygrossly and symmetrically
underdevelopedunderdeveloped
 Absence of the Palatine bonesAbsence of the Palatine bones
 Hypogenesis or agenesis of the mandibleHypogenesis or agenesis of the mandible
 Paranasal sinuses are underdevelopedParanasal sinuses are underdeveloped
 Auditory ossicles are underdevelopedAuditory ossicles are underdeveloped
 Cranial vault is normal.Cranial vault is normal.

Miller or Wildervanck-SmithMiller or Wildervanck-Smith
syndromesyndrome
 Underdeveloped cheekbonesUnderdeveloped cheekbones
 An abnormally small jawAn abnormally small jaw
 Cleft palateCleft palate
 Small, protruding "cup-shaped" earsSmall, protruding "cup-shaped" ears
 Drooping of the lower eyelidsDrooping of the lower eyelids

 Incomplete development of the limbsIncomplete development of the limbs
 Webbing of the fingers or toesWebbing of the fingers or toes
 Absence of the little fingers or toesAbsence of the little fingers or toes
 Underdevelopment of bones in theUnderdevelopment of bones in the
forearm.forearm.
 Does not affect a child's intelligenceDoes not affect a child's intelligence..

Nager syndrome.Nager syndrome.
( Preaxial acrofacial dysostosis )( Preaxial acrofacial dysostosis )
 Aberrations in development of the 1Aberrations in development of the 1stst
&2&2ndnd
Branchial arches and limb budsBranchial arches and limb buds
 First recognized in a patient reported by NagerFirst recognized in a patient reported by Nager
and de Reynier in 1948and de Reynier in 1948
 Hypoplastic orbitomalar regionHypoplastic orbitomalar region
 Down slanting palpebral fissuresDown slanting palpebral fissures
 The lower eyelids present lateral colobomasThe lower eyelids present lateral colobomas
 Reduced number of eyelashesReduced number of eyelashes

 Mandibular hypoplasiaMandibular hypoplasia
 Missing joint structuresMissing joint structures
 Restrictions in joint movementRestrictions in joint movement
 MicrostomiaMicrostomia
 Cleft palateCleft palate
 Reduced growth of the lower faceReduced growth of the lower face
 Congenital absence of much of the soft palateCongenital absence of much of the soft palate
 External and middile ear malformationExternal and middile ear malformation
 Temporary or permanent hearing lossTemporary or permanent hearing loss

 Limbs defects, particularly preaxialLimbs defects, particularly preaxial
anomalies- Diagnostic significanceanomalies- Diagnostic significance
 Thumb defectsThumb defects
 Radial hypoplasia or Aplasia or ProximalRadial hypoplasia or Aplasia or Proximal
radioulnar synostosisradioulnar synostosis
 Limitation of elbow extensionLimitation of elbow extension
 Defects in lower extremityDefects in lower extremity
 Genito urinary malformationGenito urinary malformation

Stylohyoid SyndromeStylohyoid Syndrome
 Eagle's SyndromeEagle's Syndrome
 Elongated Styloid Process SyndromeElongated Styloid Process Syndrome
 Carotid Artery SyndromeCarotid Artery Syndrome
 Styloid Process NeuralgiaStyloid Process Neuralgia
 StilalgiaStilalgia
 Pseudohyoid SyndromePseudohyoid Syndrome

 Dr Watt EagleDr Watt Eagle was the first to describewas the first to describe
 TonsillectomyTonsillectomy several years beforeseveral years before
 Scar tissue at the pharyngeal bedScar tissue at the pharyngeal bed
incorporated glossopharyngeal nerveincorporated glossopharyngeal nerve
 Fibrous tissue stretchedFibrous tissue stretched & rubbed over& rubbed over
the elongated styloid process.the elongated styloid process.
 Arise when the scar tissue incorporatesArise when the scar tissue incorporates
the nearby cranial nerves V, VII, X ,XIthe nearby cranial nerves V, VII, X ,XI

 These patients tend to haveThese patients tend to have worsenedworsened
symptoms duringsymptoms during physical examinationphysical examination
when the physician palpates the tonsillarwhen the physician palpates the tonsillar
bed.bed.
 Pharyngeal foreign body sensation.Pharyngeal foreign body sensation.
 DysphagiaDysphagia
 Dull pharyngeal pain radiating to the ear.Dull pharyngeal pain radiating to the ear.
 Exacerbated by neck rotation or tongueExacerbated by neck rotation or tongue
protrusionprotrusion

 Carotid artery syndromeCarotid artery syndrome
 Occurs in patients who have not hadOccurs in patients who have not had
tonsillectomy.tonsillectomy.
 Due toDue to neck traumaneck trauma
 Causes inflammatory changes,Causes inflammatory changes, excessexcess
deposition of granulation tissue or even callusdeposition of granulation tissue or even callus
depositiondeposition from sub-clinical fractures around thefrom sub-clinical fractures around the
stylohyoid chainstylohyoid chain
 The result is directThe result is direct mechanical irritationmechanical irritation of theof the
sympathetic nervessympathetic nerves accompanying the internalaccompanying the internal
and/or external carotid arteries within the carotidand/or external carotid arteries within the carotid
sheathsheath

 Neck pain that radiates to the eye, ear, mandible, softNeck pain that radiates to the eye, ear, mandible, soft
palate and nose -palate and nose - External carotid arteryExternal carotid artery
 Parietal headaches and pain along the distribution of theParietal headaches and pain along the distribution of the
ophthalmic artery -ophthalmic artery - Internal carotid arteryInternal carotid artery
 Hyper salivationHyper salivation
 Change of voice lasting for a few minutesChange of voice lasting for a few minutes
 Directed physical examination requires trans-oralDirected physical examination requires trans-oral
palpation of the tonsillar bed that will reproduce thepalpation of the tonsillar bed that will reproduce the
symptoms.symptoms.
 The symptoms may be relieved by a diagnosticThe symptoms may be relieved by a diagnostic
infiltration ofinfiltration of local anaesthetic and/or steroidslocal anaesthetic and/or steroids into theinto the
tonsillar bed.tonsillar bed.

 Diagnostic confirmation requires visualization ofDiagnostic confirmation requires visualization of
thethe ossified Stylohyoidossified Stylohyoid chain on radiographschain on radiographs
 Plain radiographyPlain radiography is the commonest initialis the commonest initial
modality used to investigate these patients.modality used to investigate these patients.
 The normal SHL is radiolucent on plainThe normal SHL is radiolucent on plain
radiographs and a normal SP is not readilyradiographs and a normal SP is not readily
visible because the mandible and teeth willvisible because the mandible and teeth will
overlapoverlap it in most viewsit in most views
 Panoramic, Antero –posterior, lateral viewsPanoramic, Antero –posterior, lateral views
 Lateral oblique, Towne's projections andLateral oblique, Towne's projections and
Submento - vertex radiographs.Submento - vertex radiographs.

 Panoramic plain radiographs arePanoramic plain radiographs are linearlylinearly
distorteddistorted images that are designed to show theimages that are designed to show the
maxilla, mandible and dentition.maxilla, mandible and dentition.
 Basal part of the StylohyoidBasal part of the Stylohyoid complex cannot becomplex cannot be
properly visualized because there is stillproperly visualized because there is still
superimposition of the mandible and teethsuperimposition of the mandible and teeth
 Spatial relationshipSpatial relationship between the Stylohyoidbetween the Stylohyoid
chain, mandible, maxilla and hyoid boneschain, mandible, maxilla and hyoid bones
becomes inaccurate due to the linear distortion.becomes inaccurate due to the linear distortion.
 This does not allow reliable assessment of theThis does not allow reliable assessment of the
length or relations of the Stylohyoid complex.length or relations of the Stylohyoid complex.

 Antero-posterior and lateral viewsAntero-posterior and lateral views..
 The length of the entire complex may beThe length of the entire complex may be betterbetter
demonstrated on lateral viewsdemonstrated on lateral views
 Less superimpositionLess superimposition of nearby structuresof nearby structures
 Computed tomographyComputed tomography (CT) scans of the upper(CT) scans of the upper
cervical region.cervical region.
 Contrast enhanced imagesContrast enhanced images
 3D spiral CT3D spiral CT
 occasionally as Barium meal , Angiography.occasionally as Barium meal , Angiography.

SYNDROMES ASSOCIATED WITHSYNDROMES ASSOCIATED WITH
EAR MALFORMATIONSEAR MALFORMATIONS

 Mandibulofacial DysostosisMandibulofacial Dysostosis
(Treacher-Collins syndrome)(Treacher-Collins syndrome)
 Acrofacial DysostosisAcrofacial Dysostosis
(Nager syndrome)(Nager syndrome)
 Hemifacial MicrosomiaHemifacial Microsomia
 Craniofacial DysostosisCraniofacial Dysostosis
(Crouzon's syndrome)(Crouzon's syndrome)

Craniofacial DysostosisCraniofacial Dysostosis
(Crouzon's syndrome)(Crouzon's syndrome)
 Described inDescribed in 1912.1912.
 Caused byCaused by premature obliteration andpremature obliteration and
ossificationossification of two or more suturesof two or more sutures
 Most often coronal and sagittal.Most often coronal and sagittal.
 Autosomal DominantAutosomal Dominant
 Dysplasia of the skeleton are caused by theDysplasia of the skeleton are caused by the
malformation of the mesenchyme and Ectodermmalformation of the mesenchyme and Ectoderm
 Mutation of the Fibroblast growth factor receptorMutation of the Fibroblast growth factor receptor
FGFR-2 gene, FGFR-3 gene.FGFR-2 gene, FGFR-3 gene.

 Early Synostosis of the suturesEarly Synostosis of the sutures
 Lateral and anteroposterior flattening of theLateral and anteroposterior flattening of the
acrocraniumacrocranium
 Growing only at the vertical axisGrowing only at the vertical axis
 AP diameter is smaller than transverseAP diameter is smaller than transverse
 Fore head is high and wideFore head is high and wide
 Hypoplastic maxillaHypoplastic maxilla
 Deviation of the nasal septumDeviation of the nasal septum
 Narrowed anterior naresNarrowed anterior nares

 HypertelorismHypertelorism
 Eyelids seems Anti-mongoloidEyelids seems Anti-mongoloid
 Upper eyelid mimickingUpper eyelid mimicking Frog faceFrog face..
 Upper lip is shortened and cleavedUpper lip is shortened and cleaved
 ProgressingProgressing optic nerve atrophyoptic nerve atrophy leads toleads to
vision impairmentvision impairment because of thebecause of the
intracranial hypertension.intracranial hypertension.
 Impairment of hearingImpairment of hearing indicatesindicates

 Malocclusion, Malposed teeth, DysphasisMalocclusion, Malposed teeth, Dysphasis
 Syndromic acanthosis nigricansSyndromic acanthosis nigricans appears in theappears in the
axillary fossa, the angle of the mouth, and on theaxillary fossa, the angle of the mouth, and on the
lips in children.lips in children.
 Malocclusion, Malposed teeth, DysphasisMalocclusion, Malposed teeth, Dysphasis
 Syndromic acanthosis nigricans appears in theSyndromic acanthosis nigricans appears in the
axillary fossa, the angle of the mouth, and on theaxillary fossa, the angle of the mouth, and on the
lips in children.lips in children.
 HeadacheHeadache
 ConvulsionsConvulsions
 Mental retardationMental retardation

Roentgenographic featuresRoentgenographic features
Skull radiographySkull radiography
 Obliterated sutures (Coronal, Sagittal)Obliterated sutures (Coronal, Sagittal)
 Shallow eye sockets (Exophthalmos)Shallow eye sockets (Exophthalmos)
 Shortened anterior cranial fossaShortened anterior cranial fossa
 Underdeveloped lateral nasal sinusesUnderdeveloped lateral nasal sinuses
 Narrowed external auditory canalNarrowed external auditory canal
 Spine radiographySpine radiography
 Presence of bifid spinous processPresence of bifid spinous process

Congenital MyotoniaCongenital Myotonia
 Autosomal dominant traitAutosomal dominant trait
C/FC/F
 CommencesCommences early in childhoodearly in childhood
 Difficulties in learning to stand and walkDifficulties in learning to stand and walk
 Severe affects on all skeletal muscles especiallySevere affects on all skeletal muscles especially
in thein the lower limbslower limbs
 Muscular contraction induces severeMuscular contraction induces severe painless,painless,
muscular spasmsmuscular spasms
 Delay in relaxationDelay in relaxation
 Muscles are large –Muscles are large – Herculean appearanceHerculean appearance

 Muscles of the thigh, forearms, and shoulders –Muscles of the thigh, forearms, and shoulders –
more commonmore common
 Muscles of the neck, masseter musclesMuscles of the neck, masseter muscles
 Muscles of theMuscles of the tongue are not reportedtongue are not reported
 Spasm of the extra ocular muscle lead toSpasm of the extra ocular muscle lead to
convergent strabismus.convergent strabismus.
 Sudden movement such as sneezing oftenSudden movement such as sneezing often
produces a prolonged spasm of the muscles ofproduces a prolonged spasm of the muscles of
the face, tongue, larynx, neck, chest.the face, tongue, larynx, neck, chest.
 Respiratory embarrassment.Respiratory embarrassment.

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