Craniofacial Anomalies

Craniofacial AnomaliesDone by:Abdullah AbdulsamadEbrahim AlhajeriMohammed AlsenniAhmed KaramOutlineCleft lip and palateCrouzon syndromeHemifacial microsomiaTreacher Collins syndromeCleidocranial dysplasiaHemifacial hyperplasiaSegmental odontomaxillary dysplasiaLingual salivary gland depressionFocal osteoporotic bone marrowCleft Lip and PalateDefinitionFailure of fusion of the developmental processes of the face during fetal developmentMost common of the craniofacial anomaliesCL/P: failure of fusion of the medial nasal process with the maxillary processCP: failure of fusion of the lateral palatal shelvesMechanical interference with the fusion of the embryonic process can also cause cleft palate (Pierre Robin sequence)

Cleft Lip and PalateDefinition continuedAssociated with other abnormalitiesVelocardiofacial syndrome: cleft palate and facial and cardiac abnormalitiesvan der Woude syndrome: cleft lip and/or cleft palate and lip pitsCleft Lip and PalateClinical featuresCL/P: most common in malesCP: more common in femalesCommon in Asian and HispanicsVariation based on severityNotch in the upper lipCleft lip extending into the nostril resulting in deformity of the alaCleft lip extending to include the alveolar process and palateAlveolar process deformity most common in the region of the lateral incisorCleft Lip and PalateClinical features continued Increased in frequency of dental anomalies in the region of the cleft: missing, hypoplastic, and supernumerary teethDental anomalies more prevalent in the mandiblePalatal defects interfere with speech and swallowingIncreased risk of recurrent middle ear infections due to abnormal anatomyCleft Lip and PalateRadiographic featuresWell-defined vertical radiolucent defect in the alveolar bone with associated dental anomaliesAbsence of maxillary lateral incisor and presence of supernumerary teethInvolved teeth are malformed and poorly positionedDelay in development of maxillary and mandibular teeth with increased incidence of hypodontiaOsseous defects extend to include the floor of the nasal cavityCleft lip and palate defects in the alveolar ridge and abnormalities of dentition

CBCT images of patient with left unilateral cleft lip and palate

Cleft Lip and PalateManagementManagement is complex, requiring coordinated efforts of a multidisciplinary teamClefts of the lip: repaired within the first 3 months of lifeClefts of the palate: repaired within the first yearBone affected in the cleft side augmented with bone grafting before replacement of missing teethCrouzon SyndromeDefinitionAutosomal dominant skeletal dysplasiaPremature craniosynostosis: spontaneous mutations or familialCoronal suture closes firstLack of bone growth perpendicular to the synchondroses characteristic cranial shape and facial featuresCrouzon SyndromeClinical featuresBrachycephalyHypertelorismOrbital proptosisEarly suture closure increased intracranial pressure blindnessNose appear prominent due to narrow and short maxillaSoft tissues of the nose collapse due to hypoplastic anterior nasal spineMaxillary arch narrow and retruded crowdingCharacteristic facial features of Crouzon syndrome

Crouzon SyndromeGeneral radiographic featuresSclerosis and overlapping edges of cranial suturesFacial features may present before radiographic evidenceDiminished facial growthProminent cranial markings seen as multiple depressive radiolucencies (digital impressions) beaten metal appearance

Radiographic features of the jawsMaxillary hypoplasia class III malocclusionOrbital proptosisPrognathic mandibleLateral and 45-degree skull views

Lateral skull view

Crouzon SyndromeDifferential diagnosisNonsyndromic craniosynostosisBiomechanical factorsEnvironmental factors maternal smokingHormonal factors - hyperthyroidismGenetic factorsSyndromic craniosynostosApert syndrome: fused fingers or toesCrouzonodermoskeletal syndrome: spine abnormalities and benign growths in the jaw

Crouzon SyndromeManagementFeatures of CS worsen over time early diagnosis permits early treatmentEarly treatment allow normal brain growth and development by preventing increased intracranial pressureHemifacial MicrosomiaDefinitionSecond most common of the developmental anomaliesReduced growth and development of half of the faceCause: abnormal development of 1st and 2nd branchial archesUnilateral; may involve both sides (craniofacial microsomia)Delayed dental eruption and hypodontiaMale predilection 3:2Right side predominance 3:2Associated vertebral abnormalities and epibulbar dermoids in Goldenhar syndromeHemifacial MicrosomiaClinical featuresApparent at birthProgressive failure of the affected side to growAplasia or hypoplasia of the external ear (microtia)Diminished skull sizeMidsagittal plane curved toward the affected sideOcclusal plane canted up to the affected sideClinical photograph of infant with hemifacial microsomia

Hemifacial MicrosomiaRadiographic featuresReduction in the size of bonesClearest in the mandibleLack of development of the condyle, coronoid process, or ramusBody is reduced in sizeDentition show reduced in number or sizeReduction in the size of the muscles of mastication and muscles of facial expressionThree-dimensional CT image of the affected side

Panoramic image and a posteroanterior skull view

Hemifacial MicrosomiaDifferential diagnosisCondylar hypoplasia: does not produce ear changesRadiation therapy during growthProgressive hemifacial atrophy (Parry-Romberg syndrome): changes more severe over time, but are not present at birth and the ears are normalHemifacial MicrosomiaManagementConventional orthognathic surgery or distraction osteogenesisCorrect or prevent malocclusionEar abnormalities require plastic surgeryHearing loss correction by hearing aidsBilateral cases (Goldenhar syndrome) require cochlear implantsTreacher Collins SyndromeDefinitionDisorder of cranofacial developmentMost common type of mandibular dysostosisAutosomal dominantMutation of TCOF1 gene on chromosome 5Incidence of 1:50,000Treacher Collins SyndromeClinical featuresUnderdevelopment or absence of zygomatic bonesDownward inclination of palpebral fissuresUnderdevelopment of the mandibleMalformation of the external earsClass II anterior open bitePartial or complete deafnessTreacher Collins Syndrome

Treacher Collins SydromeRadiographic featuresHypoplastic or missing zygomatic bonesHyoplasia of the lateral aspects of the orbitsReduction in size or absence ofAuditory canalMastoid air cellsArticular eminenceTreacher Collins SydromeRadiographic features continued Hypoplastic maxilla and mandibleSteep mandibular angle and short ramusPosterior-inferior positioning of the condylesUnderdevelopment or absence of maxillary sinusesCervical spine anomalies (18%)Aplasia or dysplasia of major salivary glands (50%)

Lateral skull image

Three-dimensional CT images

Treacher Collins SydromeDifferential diagnosisCondylar agenesisHallermann-Streiff syndromeNager syndromePierre Robin sequenceTreacher Collins SydromeManagementBilateral distraction osteogenesis of the mandiblePlastic and reconstructive surgeryHearing aids or cochlear implantsOrthodontics and orthogathic surgeryCleidocranial DysplasiaDefinitionMalformation syndrome affecting bones and teethAutosomal dominantMutation in the Runx2 gene on chromosome 6Prevalence of 1:1,000,000F:M 1:1

Cleidocranial DysplasiaClinical featuresAffects skull, clavicles and dentitionShort statureBrachycephalic skullUnderdeveloped paranasal sinusesDelayed closure of cranial suturesBroadening and depression of the bridge of the noseHypertelorismAplasia or hypoplasia of the clavicles

Cleidocranial DysplasiaClinical features continuedRetention of primary dentitionDelayed eruption of permanent dentitionPaucity or absence of cellular cementCrowding and disorganization of the developing permanent dentitionCleidocranial DysplasiaGeneral radiographic featuresBrachycephalyDelayed or failed closure of the fontanellesMultiple wormian bonesUnderdevelopment of clavicles

Radiographic features of the jawsUnderdevelopment of maxilla and paranasal sinuses maxillary micrognathiaPatent mandibular symphysisIncreased density of alveolar bone overlying unerupted teethCoarse trabecular pattern in the mandibleChest radiograph

Lateral radiograph of the skull

Posteroanterior skull film

Three-dimensional CT reconstruction of the skull

Cleidocranial DysplasiaRadiographic features associated with teethProlonged retention of primary dentitionMultiple unerupted permanent and supernumerary teeth dentigerous cysts

Panoramic image and Axial CT view

Cleidocranial DysplasiaDifferential diagnosisGardners syndromePycnodysostosisCleidocranial DysplasiaManagementRemoval of primary and supernumerary teethRemoval of bone overlying the normal permanent teethAutotransplantation of teethMonitoring patients for the development of cystsSurgical treatment of bony defects of the skullHemifacial HyperplasiaDefinitionUn-proportional growth of half of the face including the maxilla alone or with the mandible or with other parts of the bodyUnknown or genetic causes (Beckwith-Weidemann Syndrome)

Hemifacial HyperplasiaClinical featuresCan be detected at birth or recognized later during growingOften occurs with other abnormalities Mental deficiencySkin abnormalitiesCompensatory scoliosisGenitourinary tract abnormalitiesVarious neoplasms (Wilm's tumor of the kidney, adrenocortical tumor and hepatoblastoma)Hemifacial HyperplasiaClinical features continuedDentition is affectedUnilateral enlargementAccelerated developmentPremature loss of primary teethTongue and alveolar bone enlargement on the affected sideHemifacial HyperplasiaRadiographic featuresEnlargement of the bones of the affected side (maxilla, mandible, frontal, temporal, and zygomatic bone)Few cases involve only one side of the mandible or one side of the maxilla

Panoramic radiograph

CT axial image and three-dimensional CT scan

Hemifacial HyperplasiaDifferential diagnosisHemifacial Hypoplasia (of the opposite side)Arteriovenous aneurismsHemangiomaCongenital lymphedemaCondylar HyperplasiaMonostotic fibrous dysplasia, segmental odontomaxillary dysplasia (if maxilla only affected)Hemifacial HyperplasiaManagementReferral to a medical geneticist for diagnosis and early detection Segmental Odontomaxillary DysplasiaDefinitionDevelopmental abnormality that affects the posterior alveolar process of one side of the maxillaUnknown cause

Segmental Odontomaxillary DysplasiaClinical featuresUnilateral enlargement of the alveolar process with or without gingival enlargement and dental anomaliesDentition is affectedMissing (commonly premolars)UneruptedHypoplasticIpsilateral HypertrichosisSkin anomalies (hyper/ hypopegmentation)Becker's nevusClefting in 23% of casesMild facial enlargement

Segmental Odontomaxillary DysplasiaRadiographic featuresIncreased density of maxillary alveolar processThick trabeculae that are vertically orientedMissing buccal cortical platesLarger and splayed roots of deciduous teeth (in comparison to the unaffected side)Enlarged crowns of deciduous and permanent teethEnlarged pulp chambersIrregular resorption of roots of deciduous teethNon-pneumatization of alveolar process by the maxillary sinusAlveolar process thus appear smallerDelayed eruption of 2nd permanent molarsPanoramic view

Demonstration of coarse trabecular pattern

CBCT images of the right maxilla

Segmental Odontomaxillary DysplasiaDifferential diagnosisSegmental hemifacial hyperplasiaNot associated with coarse vertically oriented trabeculaeMonostotic fibrous dysplasiaNot associated with missing teethDisproportionate growth of the affected sideRegional odontodysplasiaAssociated with ghost teethNot associated with expansion and alteration in trabecular pattern in the alveolar boneLingual Salivary Gland DepressionDefinitionConcavities in the lingual surface of the mandible lined with an intact outer cortexLocation: within submandibular gland fossa and close to inferior border of the mandibleAssociated with growth of salivary glandsAdjacent to lingual surface of mandibleNear the apical region of bicuspids sublingual glandsMedial surface of the ramus parotid glandUnknown etiologyAge: 11-30 years oldLingual Salivary Gland DepressionClinical featuresRareAsymptomatic, impossible to palpateMale predilection 6:1Peak incidence: 5th and 6th decades

Lingual Salivary Gland DepressionRadiographic featuresWell-defined round, ovoid, or lobulated radiolucencyDiameter: 1-3 cmLocation: below the inferior alveolar nerve canal and anterior to the angle of the mandibleMargins are well-defined by a dense sclerotic radiopaque marginFat tissue within the defectLingual mandibular bone depressions

Axial CT scan using bone and soft tissue windows

Three-dimensional CT image

Lingual Salivary Gland DepressionDifferential diagnosisOdontogenic cystsEpicenter of odontogenic lesions are located above the inferior alveolar canalLingual Salivary Gland DepressionManagementDestruction of the well-defined cortex of the defect may indicate the presence of a neoplasmFocal Osteoporotic Bone MarrowDefinitionRadiolucent defects within the cancellous portion of the jawsEtiology is unknownBone marrow hyperplasiaPersistent embryologic marrow remnantsSites of abnormal healingVariation of normal anatomyFocal Osteoporotic Bone MarrowClinical featuresAsymptomaticMiddle-aged womenFocal Osteoporotic Bone MarrowRadiographic featuresLocationMandibular molar-premolar regionMaxillary tuberosityMandibular retromolar areaEdentulous ridgeNear apex of teethInternal aspect: radiolucent because of fewer trabeculaePeriphery: ill-defined and blending OR corticatedSurrounding bone is normalFocal osteoporotic bone marrow defect

Focal osteoporotic bone marrow defect in the furcation region

Focal Osteoporotic Bone MarrowDifferential diagnosisSmall simple bone cystInflammatory lesionFurcation region or at apex of teethVery early inflammatory lesions have an intact lamina dura similar to normal boneFocal Osteoporotic Bone MarrowManagementNo treatmentDoubt: longitudinal study at 3-month intervalsMarrow space should not increase in sizeThe EndThank you