2nd arch syndromes / dental courses

Syndromes associate with Syndromes associate with Second Pharyngeal archSecond Pharyngeal arch

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CONTENTSCONTENTS DEVELOPMENTDEVELOPMENT MOLECULAR REGULATIONMOLECULAR REGULATION DERIVATIVESDERIVATIVES SYNDROMESSYNDROMES


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Blastocyst


Endodermal wall of the foregut is Endodermal wall of the foregut is separated from the surface Ectoderm by separated from the surface Ectoderm by a layer of mesoderma layer of mesoderm

Mesoderm arranged in the form of Mesoderm arranged in the form of 6 6 barsbars

Runs Runs Dorso -VentrallyDorso -Ventrally in the side wall of in the side wall of the foregutthe foregut

Each of these bars grows ventrally Each of these bars grows ventrally Fuse with the corresponding bar of the Fuse with the corresponding bar of the

opposite side to form a opposite side to form a Pharyngeal arch. Pharyngeal arch. www.indiandentalacademy.comwww.indiandentalacademy.com

Interval between any adjoining arches, the Interval between any adjoining arches, the endoderm extends outwards in the form ofendoderm extends outwards in the form of Pharyngeal pouch or Endodermal pouch Pharyngeal pouch or Endodermal pouch

These pouch to meet the ectoderm which These pouch to meet the ectoderm which dips into this interval as an dips into this interval as an Ectodermal Ectodermal CleftCleft

11stst & 2 & 2ndnd arch appear on the arch appear on the 22 day22 day By the By the 2929thth day day four arches can be seen. four arches can be seen. 55th th arch disappears arch disappears soon after its soon after its

formation. formation. www.indiandentalacademy.comwww.indiandentalacademy.com

EctodermEctoderm (forming all nerve and some epithelial (forming all nerve and some epithelial

tissue)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 Nerves Nerves


Molecular RegulationMolecular Regulation Most of the face – Most of the face – Neural crest cellsNeural crest cells Migrate in to the pharyngeal arches from Migrate in to the pharyngeal arches from

the edges of the cranial neural foldsthe edges of the cranial neural folds Patterning of the pharyngeal arches appear Patterning of the pharyngeal arches appear

to be regulated by to be regulated by HOX genesHOX genes carried to carried to the arches by the migrating neural crest. the arches by the migrating neural crest.

Rhombomere - subdivision of hindbrain Rhombomere - 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 arch arch R4 migrate to the 2R4 migrate to the 2ndnd arch arch R6 & R7 migrate to the 3R6 & R7 migrate to the 3rdrd arch arch R8 migrate to the 4 & 6 archR8 migrate to the 4 & 6 arch


NCCs in each Rhombomere migrate NCCs in each Rhombomere migrate to brachial arches with compatible to brachial arches with compatible HOX codeHOX code

RetinoidRetinoid can also regulate HOX can also regulate HOX gene expressiongene expression

Retinoic acid Response elements Retinoic acid Response elements (RAREs).(RAREs).

Binding site for Retinoic acid in the Binding site for Retinoic acid in the promoter region of the HOX genepromoter region of the HOX gene


Deficiencies or Excess of retinoid Deficiencies or Excess of retinoid Disrupt migration and axial identity Disrupt migration and axial identity

of hind brain crest cells.of hind brain crest cells. Resulting severe Resulting severe Craniofacial defects.Craniofacial defects. OTX2 gene, MSX-2 genes OTX2 gene, MSX-2 genes participate participate

the morphogenesis of the pharyngeal the morphogenesis of the pharyngeal arch.arch.


Derivatives of the 2Derivatives of the 2ndnd Branchial Branchial ArchArch

Hyoid (Reichert cartilage)Hyoid (Reichert cartilage)

Nerve Nerve 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 muscle Stapedius 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 Syndromes Developmental Syndromes Associated With Facial Nerve Associated With Facial Nerve AbnormalitiesAbnormalities


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


Hemifacial microsomia Hemifacial microsomia Soft tissue and Bone from the Soft tissue and Bone from the

pharyngeal arches on one side of a pharyngeal arches on one side of a child's face fails to develop fully. child's face fails to develop fully.

Occurs in about one in 5,600 births.Occurs in about one in 5,600 births. Unilateral Unilateral underdevelopment underdevelopment of the of the

eye, cheekbone, lower jaw, facial eye, cheekbone, lower jaw, facial nerve and muscles.nerve and muscles.

Hearing loss from underdevelopment Hearing loss from underdevelopment of the middle ear.of the middle ear.


Soft Palate Soft Palate move to the unaffected move to the unaffected side because of muscle weakness on side because of muscle weakness on the affected side. the affected side.

Tongue -Tongue - small with nerve weakness small with nerve weakness on the affected side. on the affected side.

NerveNerve responsible for moving the responsible for moving the facial muscles is weak on the affected facial muscles is weak on the affected side.side.

MacrostomiaMacrostomia because of an opening because of an opening at the corner of the mouth. at the corner of the mouth.


Unilateral Microtia and AtresiaUnilateral Microtia and Atresia Facial paralysisFacial paralysis Failure of mandibular Ramus and Failure of mandibular Ramus and

Condyle Condyle Facial asymmetry Facial asymmetry About 15 percent of children with About 15 percent of children with

Hemifacial microsomia have a cleft Hemifacial microsomia have a cleft lip or palate lip or palate


DiGeorge syndromeDiGeorge syndrome

Facial paralysis reportedFacial paralysis reported Multiple anomalies of craniofacial, Multiple anomalies of craniofacial,

cardiovascular, and visceral cardiovascular, and visceral structures.structures.

Absent and/or Hypoplastic thymus Absent and/or Hypoplastic thymus Abnormal Parathyroid glands Abnormal Parathyroid glands

developmentdevelopment


Melkersson - Rosenthal syndromeMelkersson - Rosenthal syndrome ((Cheilitis Granulomatosa)Cheilitis Granulomatosa) Recurrent alternating facial paralysisRecurrent alternating facial paralysis Non tender Edema of lips, face, and Non tender Edema of lips, face, and

eyelidseyelids Enlarged lip appears cracked and fissured Enlarged lip appears cracked and fissured

with reddish brown discoloration.with reddish brown discoloration. Regional lymph nodes are enlargedRegional lymph nodes are enlarged Lose the sense of taste Lose the sense of taste Decreased salivary gland secretionDecreased salivary gland secretion


Cheilitis Cheilitis Fissured tongueFissured tongue Normal lip architecture is eventually Normal lip architecture is eventually

altered by the presence of lymph altered by the presence of lymph edema and noncaseating edema and noncaseating granulomas in the lamina propria. granulomas in the 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 Weakness or complete paralysis of the

Facial muscles.Facial muscles. Lack of facial expressionLack of facial expression Lack of lateral eye movement Lack of lateral eye movement Lack of blinking. Lack of blinking.


Unable to smile, frown, raise their Unable to smile, frown, raise their eyebrows, close their eyelids or pucker eyebrows, close their eyelids or pucker their lips. their lips.

Drooling and difficulty with speech.Drooling and difficulty with speech. Infants can have difficulty with sucking Infants 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 Involvement of external ear& oral

mucosamucosa Facial paralysis Facial paralysis Pain of external auditory meatus and Pain of external auditory meatus and

pinna of the earpinna of the ear Vesicular eruptions in the oral cavity Vesicular eruptions in the oral cavity

and Oropharynxand Oropharynx Hoarseness, Tinnitus, and VertigoHoarseness, Tinnitus, and Vertigo..


Von Recklinghausen neurofibromatosisVon Recklinghausen neurofibromatosis

Facial paralysis possible from a neurofibroma Facial paralysis possible from a neurofibroma of the facial nerve of the facial nerve

Secondary to encroachment by an acoustic Secondary 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 Autosomal dominantAutosomal dominant Manifests in third decadeManifests in third decade Symptoms secondary to tumor Symptoms secondary to tumor

encroachment on nervesencroachment on nerves


OsteopetrosisOsteopetrosis

"Marble bone disease“"Marble bone disease“ Uncommon genetic disorder Uncommon genetic disorder Characterized by increasing skeletal Characterized by increasing skeletal

densitydensity Facial paralysisFacial paralysis Acute and recurringAcute and recurring


Benign and MalignantBenign and Malignant Benign form is autosomal dominantBenign form is autosomal dominant Not commonly associated with facial Not commonly associated with facial

paralysis. paralysis. Malignant form is autosomal recessive Malignant 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 to Death often results at a young age due to

infection.infection.www.indiandentalacademy.comwww.indiandentalacademy.com

SclerostenosisSclerostenosis

Facial paralysis possibly apparent at birthFacial paralysis possibly apparent at birthOften 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 Hyperostosis of mandible, calvaria, pelvis, and

claviclesclavicles 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 paralysis Unilateral or bilateral facial paralysis Autosomal dominantAutosomal dominant 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 hearing Conductive and sensorineural hearing

losslossManifest in early infancy or childhoodManifest in early infancy or childhood


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 Collins It is named after Edward Treacher Collins ophthalmologist who described its essential ophthalmologist who described its essential traits in 1900.traits in 1900.

is a rare genetic disorder characterized by is 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 Failure of differentiation of maxillary

mesoderm at and after the 50mm stage of the mesoderm at and after the 50mm stage of the embryo.embryo.


Cause autosomal dominant gene.Cause autosomal dominant gene.Males and Females are equally affectedMales and Females are equally affectedGene – Chromosome 5q32-q33.1Gene – Chromosome 5q32-q33.1C/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 characterized by absent, small, or unusually formed ears (pinnae), called unusually formed ears (pinnae), called Microtia.Microtia.


Defects in the Defects in the Middle EarMiddle Ear cause hearing cause 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 side Underdeveloped 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 ) of the lower

eyelidseyelids Underdevelopment of the bones of the Underdevelopment of the bones of the

face, zygomas, mandible, maxilla.face, zygomas, mandible, maxilla.


MacrostomiaMacrostomia High palateHigh palate Abnormal position & Malocclusion Abnormal position & Malocclusion

teethteeth Blind fistulas between the angles of Blind fistulas between the angles of

the ears and the angles of the mouththe ears and the angles of the mouth Face is described as Bird like or Fish Face is described as Bird like or Fish

like in nature.like in nature.


Roentgenographic FeaturesRoentgenographic Features Bodies of both malar bones tend to be Bodies of both malar bones tend to be

grossly and symmetrically grossly 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 underdeveloped Paranasal sinuses are underdeveloped Auditory ossicles are underdevelopedAuditory ossicles are underdeveloped Cranial vault is normal.Cranial vault is normal.


Miller or Wildervanck-Smith Miller 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 eyelids Drooping of the lower eyelids


Incomplete development of the limbs Incomplete development of the limbs Webbing of the fingers or toes Webbing of the fingers or toes Absence of the little fingers or toesAbsence of the little fingers or toes Underdevelopment of bones in the Underdevelopment 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 First recognized in a patient reported by

Nager and de Reynier in 1948Nager and de Reynier in 1948 Hypoplastic orbitomalar regionHypoplastic orbitomalar region Down slanting palpebral fissuresDown slanting palpebral fissures The lower eyelids present lateral The lower eyelids present lateral

colobomas 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 Congenital absence of much of the soft

palate palate External and middile ear malformationExternal and middile ear malformation Temporary or permanent hearing loss Temporary or permanent hearing loss


Limbs defects, particularly preaxial Limbs defects, particularly preaxial anomalies- Diagnostic significanceanomalies- Diagnostic significance

Thumb defectsThumb defects Radial hypoplasia or Aplasia or Radial hypoplasia or Aplasia or

Proximal radioulnar synostosisProximal radioulnar 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 Syndrome Carotid Artery Syndrome Styloid Process NeuralgiaStyloid Process Neuralgia StilalgiaStilalgia Pseudohyoid SyndromePseudohyoid Syndrome


Dr Watt EagleDr Watt Eagle was the first to describe was the first to describe TonsillectomyTonsillectomy several years before several years before Scar tissue at the pharyngeal bed Scar tissue at the pharyngeal bed

incorporated glossopharyngeal nerve incorporated glossopharyngeal nerve Fibrous tissue stretchedFibrous tissue stretched & rubbed & rubbed

over the elongated styloid process.over the elongated styloid process. Arise when the scar tissue Arise when the scar tissue

incorporates the nearby cranial incorporates the nearby cranial nerves V, VII, X ,XI nerves V, VII, X ,XI


These patients tend to have These patients tend to have worsened worsened symptoms during symptoms during physical examinationphysical examination when the physician palpates the tonsillar when 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 tongue Exacerbated by neck rotation or tongue

protrusion protrusion


Carotid artery syndromeCarotid artery syndrome Occurs in patients who have not had Occurs in patients who have not had

tonsillectomy. tonsillectomy. Due to Due to neck traumaneck trauma Causes inflammatory changes, Causes inflammatory changes, excess excess

deposition of granulation tissue or even deposition of granulation tissue or even callus depositioncallus deposition from sub-clinical from sub-clinical fractures around the stylohyoid chain fractures around the stylohyoid chain

The result is direct The result is direct mechanical irritationmechanical irritation of of the the sympathetic nervessympathetic nerves accompanying the accompanying the internal and/or external carotid arteries internal and/or external carotid arteries within the carotid sheathwithin the carotid sheath


Neck pain that radiates to the eye, ear, mandible, Neck pain that radiates to the eye, ear, mandible, soft palate and nose - soft palate and nose - External carotid arteryExternal carotid artery

Parietal headaches and pain along the distribution Parietal headaches and pain along the distribution of the ophthalmic artery - of the ophthalmic artery - Internal carotid artery Internal 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-oral Directed physical examination requires trans-oral

palpation of the tonsillar bed that will reproduce palpation of the tonsillar bed that will reproduce the symptoms. the symptoms.

The symptoms may be relieved by a diagnostic The symptoms may be relieved by a diagnostic infiltration of infiltration of local anaesthetic and/or steroidslocal anaesthetic and/or steroids into into the tonsillar bed. the tonsillar bed.


Diagnostic confirmation requires Diagnostic confirmation requires visualization of the visualization of the ossified Stylohyoidossified Stylohyoid chain on radiographs chain on radiographs

Plain radiographyPlain radiography is the commonest initial is the commonest initial modality used to investigate these patients. modality used to investigate these patients.

The normal SHL is radiolucent on plain The normal SHL is radiolucent on plain radiographs and a normal SP is not readily radiographs and a normal SP is not readily visible because the mandible and teeth will visible because the mandible and teeth will overlap overlap it in most viewsit in most views

Panoramic, Antero –posterior, lateral views Panoramic, Antero –posterior, lateral views Lateral oblique, Towne's projections and Lateral oblique, Towne's projections and

Submento - vertex radiographs.Submento - vertex radiographs.


Panoramic plain radiographs are Panoramic plain radiographs are linearly linearly distorteddistorted images that are designed to show images that are designed to show the maxilla, mandible and dentition.the maxilla, mandible and dentition.

Basal part of the StylohyoidBasal part of the Stylohyoid complex cannot complex cannot be properly visualized because there is still be properly visualized because there is still superimposition of the mandible and teethsuperimposition of the mandible and teeth

Spatial relationshipSpatial relationship between the Stylohyoid between the Stylohyoid chain, mandible, maxilla and hyoid bones chain, mandible, maxilla and hyoid bones becomes inaccurate due to the linear becomes inaccurate due to the linear distortion. distortion.

This does not allow reliable assessment of the This 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 be The length of the entire complex may be betterbetter demonstrated on lateral views demonstrated on lateral views

Less superimpositionLess superimposition of nearby structures of nearby structures Computed tomographyComputed tomography (CT) scans of the (CT) scans of the

upper cervical region.upper cervical region. Contrast enhanced images Contrast enhanced images 3D spiral CT 3D spiral CT occasionally as Barium meal , Angiography.occasionally as Barium meal , Angiography.


SYNDROMES ASSOCIATED WITH SYNDROMES ASSOCIATED WITH EAR MALFORMATIONSEAR MALFORMATIONS


Mandibulofacial Dysostosis Mandibulofacial Dysostosis (Treacher-Collins syndrome) (Treacher-Collins syndrome) Acrofacial Dysostosis Acrofacial 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 in Described in 1912.1912. Caused by Caused by premature obliteration and premature obliteration and

ossificationossification of two or more sutures of two or more sutures Most often coronal and sagittal.Most often coronal and sagittal. Autosomal DominantAutosomal Dominant Dysplasia of the skeleton are caused by the Dysplasia of the skeleton are caused by the

malformation of the mesenchyme and malformation of the mesenchyme and EctodermEctoderm

Mutation of the Fibroblast growth factor Mutation of the Fibroblast growth factor receptor 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 Lateral and anteroposterior flattening of

the acrocranium the acrocranium Growing only at the vertical axisGrowing only at the vertical axis AP diameter is smaller than transverse AP 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 mimicking Upper eyelid mimicking Frog faceFrog face.. Upper lip is shortened and cleavedUpper lip is shortened and cleaved Progressing Progressing optic nerve atrophyoptic nerve atrophy

leads to leads to vision impairmentvision impairment because because of the intracranial hypertension.of the intracranial hypertension.

Impairment of hearingImpairment of hearing indicates indicates www.indiandentalacademy.comwww.indiandentalacademy.com

Malocclusion, Malposed teeth, DysphasisMalocclusion, Malposed teeth, Dysphasis Syndromic acanthosis nigricansSyndromic acanthosis nigricans appears in appears in

the axillary fossa, the angle of the mouth, the axillary fossa, the angle of the mouth, and on the lips in children.and on the lips in children.

Malocclusion, Malposed teeth, DysphasisMalocclusion, Malposed teeth, Dysphasis Syndromic acanthosis nigricans appears in Syndromic acanthosis nigricans appears in

the axillary fossa, the angle of the mouth, the axillary fossa, the angle of the mouth, and on the lips in children.and on the 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 process Presence of bifid spinous process


Congenital MyotoniaCongenital Myotonia Autosomal dominant traitAutosomal dominant traitC/FC/F Commences Commences early in childhoodearly in childhood Difficulties in learning to stand and walkDifficulties in learning to stand and walk Severe affects on all skeletal muscles Severe affects on all skeletal muscles

especially in the especially in the lower limbslower limbs Muscular contraction induces severe Muscular contraction induces severe

painless, muscular spasms painless, muscular spasms Delay in relaxationDelay in relaxation Muscles are large – Muscles are large – Herculean appearanceHerculean appearance


Muscles of the thigh, forearms, and Muscles of the thigh, forearms, and shoulders – more commonshoulders – more common

Muscles of the neck, masseter musclesMuscles of the neck, masseter muscles Muscles of the Muscles of the tongue are not reportedtongue are not reported Spasm of the extra ocular muscle lead to Spasm of the extra ocular muscle lead to

convergent strabismus.convergent strabismus. Sudden movement such as sneezing often Sudden movement such as sneezing often

produces a prolonged spasm of the muscles produces a prolonged spasm of the muscles of the face, tongue, larynx, neck, chest.of the face, tongue, larynx, neck, chest.

Respiratory embarrassment.Respiratory embarrassment.


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