CONGENITAL CONGENITAL ABNORMALITIES ABNORMALITIES OF FACEOF FACE

PRESENTED BY:PRESENTED BY:

SUKHJIT KAURSUKHJIT KAUR

INTRODUCTIONINTRODUCTION

Congenital malformationsCongenital malformations are defined as “gross are defined as “gross structural defects” present at birth. structural defects” present at birth.

In general, most congenital anomalies can In general, most congenital anomalies can be divided into three types be divided into three types 

a) Disruptionsa) Disruptions  b) Deformationsb) Deformations  c) Malformationsc) Malformations   With the present advancement in With the present advancement in

embryology and genetics, and its correlations, the embryology and genetics, and its correlations, the associated anomalies need to be differentiated associated anomalies need to be differentiated from syndromes, from sequences and from syndromes, from sequences and associations in patients with multiple congenital associations in patients with multiple congenital anomalies. anomalies.

They are generally described in four They are generally described in four categories:categories:

• MONOGENIC SYNDROME: Van der Woude MONOGENIC SYNDROME: Van der Woude syndrome has been linked to Chromosome syndrome has been linked to Chromosome 1q32-1q32- q41. q41.

• CHROMOSOMAL SYNDROMECHROMOSOMAL SYNDROME: Trisomies 13 : Trisomies 13 and 18 and 18

• SEQUENCE: Pierre Robin sequenceSEQUENCE: Pierre Robin sequence • ASSOCIATION: Oral clefts are frequently ASSOCIATION: Oral clefts are frequently

associated with congenital heart defects.associated with congenital heart defects.

ETIOLOGY OF CONGENITAL ETIOLOGY OF CONGENITAL ABNORMALITIESABNORMALITIES

1. Nutritional1. Nutritional

• Folic acidFolic acid

• Homocystein (higher levels)Homocystein (higher levels)

• Vit. B6Vit. B6

• Vit. AVit. A

• ZincZinc

To lesser extentTo lesser extent

• Vit. B2, Vit B12, Vit C, β- carotene, α- Vit. B2, Vit B12, Vit C, β- carotene, α- tocopherol, pantothenic acid, tocopherol, pantothenic acid,

Biotin, iron, MagnesiumBiotin, iron, Magnesium

ETIOLOGY OF CONGENITAL ETIOLOGY OF CONGENITAL ABNORMALITIESABNORMALITIES2. Chromosomal2. Chromosomal• Numerical abnormalities:Numerical abnormalities: trisomy, trisomy,

monosomy monosomy • Autosomal abnormlities:Autosomal abnormlities: Trisomy 21( Down Trisomy 21( Down

Syndrome), Trisomy 17-18, Trisomy 13-15 Syndrome), Trisomy 17-18, Trisomy 13-15 • Sex Chromosome abnormalities:Sex Chromosome abnormalities:

Klinefelter’s syndrome(XXY, XXXY), Turner’s Klinefelter’s syndrome(XXY, XXXY), Turner’s syndrome(XO)syndrome(XO)

• Structural abnormalities of chromosomes or Structural abnormalities of chromosomes or abnormalities in crossover:abnormalities in crossover: e.g. e.g.

# # DeleltionDeleltion # # TranslocationTranslocation  # # InversionInversion  # # MosaicismMosaicism  

3. Genetic3. Genetic

Abnormalities of the genes: e.g. Abnormalities of the genes: e.g. mutation.mutation.

Three types of genetic mutations are under Three types of genetic mutations are under investigation in craniofacial disorders:investigation in craniofacial disorders:

• Those that Those that increase an individual's susceptibilityincrease an individual's susceptibility for a given error in morphogenesis but produce for a given error in morphogenesis but produce a phenotype only through interaction with other a phenotype only through interaction with other genes or environmental factors;genes or environmental factors;

• Those that Those that produce phenotypes directlyproduce phenotypes directly; and; and

• Those that Those that modify expressionmodify expression of disease of disease producing genes and thus alter the phenotype.) producing genes and thus alter the phenotype.)

• (Various genes and loci have been identified as (Various genes and loci have been identified as responsible for responsible for orofacial clefts. These include orofacial clefts. These include 1q, 2p, 4q, 6p, 14q, 17q, and 19q)1q, 2p, 4q, 6p, 14q, 17q, and 19q)

4. Environmental 4. Environmental

• SmokingSmoking

• AlcoholismAlcoholism

• Residents near hazardous waste Residents near hazardous waste disposal sites suffer from neural tube disposal sites suffer from neural tube defectsdefects

• Environmental chemicalsEnvironmental chemicals

5. Occupation of mother:5. Occupation of mother: Cleft palate is more in Cleft palate is more in hair dresser mothershair dresser mothers

6. Chemicals: 6. Chemicals: • Cleft lip and/ or palate:Cleft lip and/ or palate: aliphatic aldehydes, aliphatic aldehydes,

glycolic glycolic etherether

• Cleft palate:Cleft palate: lead, biocides, antineoplastic, lead, biocides, antineoplastic, trichloroethylene, aliphatic acids trichloroethylene, aliphatic acids

7. Infections7. Infections• Viral Infections: Viral Infections: • syphilissyphilis 8. Hyperthermia8. Hyperthermia 9. Radiation exposure9. Radiation exposure

10. Drugs: 10. Drugs: • Aminopterin (antagonist of folic acid) Aminopterin (antagonist of folic acid) • Diphenhydantoin (Phenytoin)Diphenhydantoin (Phenytoin)• Trimethadione Trimethadione • Antianxiety drugs (diazepam, chlordiazepoxide) Antianxiety drugs (diazepam, chlordiazepoxide)

more associated with cleft lip with /without cleft more associated with cleft lip with /without cleft palatepalate

• TetracyclinesTetracyclines• AmphetaminesAmphetamines11. Hormones11. Hormones• Cortisone (in mice)Cortisone (in mice)

FACTORS AFFECTING FACTORS AFFECTING ACTIONS OF TERATOGENSACTIONS OF TERATOGENSIt depends upon:It depends upon: The stage of embryonic development: it determines the The stage of embryonic development: it determines the

susceptibility to teratogenic factors.susceptibility to teratogenic factors.• Pre-differentiation stage:Pre-differentiation stage: Consequences to fetal development: Site of embedding Consequences to fetal development: Site of embedding

on the anterior or posterior uterine wall may have on the anterior or posterior uterine wall may have consequences to fetal accessibility. Ectopic implantation consequences to fetal accessibility. Ectopic implantation constitutes risk to fetus and mother.constitutes risk to fetus and mother.

• Embryonic period:Embryonic period: Clinical consequences of errors at this stage of Clinical consequences of errors at this stage of

development: Anterior midline of germ disc is subject to development: Anterior midline of germ disc is subject to necrosis from high dose alcohol – explains midline necrosis from high dose alcohol – explains midline craniofacial features and holoprosencephaly.craniofacial features and holoprosencephaly.

• Fetal period:Fetal period: cerebral deformities result during this period. cerebral deformities result during this period. GenotypeGenotype Mechanism of action on cell metabolism:Mechanism of action on cell metabolism: e.g. inhibition of e.g. inhibition of

nucleic acid or protein synthesis.nucleic acid or protein synthesis.

SUMMARY OF FACE SUMMARY OF FACE DEVELOPMENTDEVELOPMENT

Facial structures and their corresponding origin can Facial structures and their corresponding origin can be summarized as follows:be summarized as follows:

1. 1. Frontonasal process:Frontonasal process: dorsum & apex of nose, dorsum & apex of nose, ethmoid bonesethmoid bones

2. 2. Lateral nasal process:Lateral nasal process: sides of nose sides of nose3. 3. Medial nasal process:Medial nasal process: nasal septum, philtrum, nasal septum, philtrum,

premaxilla, primary palatepremaxilla, primary palate4. 4. Maxillary process:Maxillary process: upper cheek, most of upper upper cheek, most of upper

jaw and lipjaw and lip5. 5. Mandibular process:Mandibular process: lower jaw, chin, lower lip, lower jaw, chin, lower lip,

lower cheeklower cheek

DEVELOPMENTAL DEFECTS DEVELOPMENTAL DEFECTS OF FACEOF FACE

Formation of face involves Formation of face involves fusion of these diverse components. fusion of these diverse components. This fusion is often incomplete and This fusion is often incomplete and gives rise to various abnormalities. gives rise to various abnormalities. Also disruptions in the formation of Also disruptions in the formation of these prominences lead to facial these prominences lead to facial clefting and other defects. clefting and other defects.

DEFECTS OF THE FRONTONASAL DEFECTS OF THE FRONTONASAL PROMINENCE PROMINENCE (DURING 4TH TO 6TH WEEK OF (DURING 4TH TO 6TH WEEK OF IUL)IUL)

Excess tissue in frontonasal prominence: Excess tissue in frontonasal prominence: Frontonasal DysplasiaFrontonasal Dysplasia

• • Broad nasal bridge, Broad nasal bridge,

• • Hypertelorism, Hypertelorism,

• • Cleft nose, Cleft nose,

• • Median cleft lipMedian cleft lip

• • Can be associated with other Can be associated with other defects defects (e.g. tetralogy of (e.g. tetralogy of Fallot in Fallot in Heart)Heart)

Excess tissue in frontonasal Excess tissue in frontonasal prominence: Frontonasal prominence: Frontonasal DysplasiaDysplasia

SOURCE:http://www.oucom.ohiou.edu/dbms-witmer/peds-rpac.htm

HYPERTELORISM WIDER NASAL BRIDGE MEDIAN CLEFT NOSE AND LIP

Deficient tissue in frontonasal prominence: Deficient tissue in frontonasal prominence: HoloprosencephalyHoloprosencephaly

Defective formation of forebrain Defective formation of forebrain (prosencephalon) manifests as midfacial defects(prosencephalon) manifests as midfacial defects

• •

Caused by: excessive alcohol, genes (sonic hedgehog), excessive alcohol, genes (sonic hedgehog), excessive retinoic acidexcessive retinoic acid

• • Wide range of facial defectsWide range of facial defects• Mild:Mild: short, upturned nose; deficient philtrum; short, upturned nose; deficient philtrum;

arched arched palate; microcephalypalate; microcephaly• Extreme:Extreme: medial nasal prominences and medial nasal prominences and

intermaxillary intermaxillary process fail to form; process fail to form; absence of nasal septum & ethmoid bone;absence of nasal septum & ethmoid bone; single nostril (cebocephaly); single nostril (cebocephaly); hypotelorism or even cyclopia with hypotelorism or even cyclopia with

proboscis.proboscis.

ABSENCE OF PREMAXILLA CEBOCEPHALY

SOURCE:http://www.oucom.ohiou.edu/dbms-witmer/peds-rpac.htm

SUMMARY OF PALATE SUMMARY OF PALATE DEVELOPMENTDEVELOPMENT

Development of palateDevelopment of palate Palatal development begins in week 5, but Palatal development begins in week 5, but weeks 6-9weeks 6-9 are most are most

criticalcritical

Formation of intermaxillary segmentFormation of intermaxillary segment from merged medial nasal from merged medial nasal processprocess

• • Primary palate forms from median palatine processPrimary palate forms from median palatine process • • Ossifies as the premaxillary portion of the maxillaOssifies as the premaxillary portion of the maxillaLateral palatine processesLateral palatine processes • • Ingrowths from maxillary prominences appear in the 6th weekIngrowths from maxillary prominences appear in the 6th week • • Eventually project horizontally above the tongue in 7th week.Eventually project horizontally above the tongue in 7th week. • • Fuse with each other, primary palate (in 7-8th wk), and nasal Fuse with each other, primary palate (in 7-8th wk), and nasal

septumseptum • • Fusion with lateral palatine processes starts anteriorly (7-8wk), Fusion with lateral palatine processes starts anteriorly (7-8wk),

then moves back (fusion is complete at the end of 12th week)then moves back (fusion is complete at the end of 12th week)

Soft palateSoft palate is the unossified portion of lateral palatine processes is the unossified portion of lateral palatine processes

ISOLATED INTERMAXILLARY SEGMENT AND PALATINE PROCESSES

FUSION WITH INTERMAXILLARY SEGMENT

COMPLETELY FORMED PALATE

DEFECTS OF MANDIBULAR DEFECTS OF MANDIBULAR ARCHARCH

CLEFT LIP AND/OR CLEFT PALATECLEFT LIP AND/OR CLEFT PALATE

••Incidence:Incidence:

• cleft lip - malescleft lip - males>females>females, ,

incincidenceidence 1/1000 1/1000

• cleft palate - femalescleft palate - females>males>males, ,

incincidenceidence 1/2000 1/2000

• lip : lip + palate : palate …22% : 58% : 20%lip : lip + palate : palate …22% : 58% : 20%

• SyndromeSyndrome associated associated

CLASSIFICATION OF CLPCLASSIFICATION OF CLP

Cleft lip and palate can be classified in many Cleft lip and palate can be classified in many different ways. Types of facial clefts are:different ways. Types of facial clefts are:

• Median cleft lipMedian cleft lip• Unilateral Cleft LipUnilateral Cleft Lip It forms as a persistent labial groove. It forms as a persistent labial groove. Simonart band:Simonart band: it is a bridge of it is a bridge of tissue spanning the clefttissue spanning the cleft• Bilateral Cleft LipBilateral Cleft Lip • • Central soft-tissue mass Central soft-tissue mass that moves freelythat moves freely

SOURCE: http://www.oucom.ohiou.edu/dbms-witmer/peds-rpac.htm

FACIAL CLEFTSFACIAL CLEFTS

unilateral bilateral

Source: www.lifescript.com

CLASSIFICATION OF CLPCLASSIFICATION OF CLP• Anterior Cleft AnomaliesAnterior Cleft Anomalies Result from failure of lateral palatine processes to fuse to primary Result from failure of lateral palatine processes to fuse to primary

palate.palate. • • Clefting of alveolar process of maxilla as well as lip.Clefting of alveolar process of maxilla as well as lip. • • Complete cleft extends to incisive foramen.Complete cleft extends to incisive foramen. • • Complete bilateral anterior cleft isolates the anterior and Complete bilateral anterior cleft isolates the anterior and

posterior parts of the palate.posterior parts of the palate.

• Posterior Cleft AnomaliesPosterior Cleft AnomaliesResult from failure of lateral palatine processes to grow medially and Result from failure of lateral palatine processes to grow medially and

fuse to each otherfuse to each other

• • Clefts extending through both soft and hard (bony) palate to the Clefts extending through both soft and hard (bony) palate to the incisive foramen.incisive foramen.

• • Isolates anterior and posterior parts of palateIsolates anterior and posterior parts of palate • Complete cleft palateComplete cleft palate • • Complete bilateral cleft of the lip and alveolar process of the Complete bilateral cleft of the lip and alveolar process of the

maxillae with bilateral cleft of the anterior palate and maxillae with bilateral cleft of the anterior palate and unilateral unilateral cleft of the posterior palatecleft of the posterior palate..

• • Complete bilateral cleft of the lip and alveolar process of the Complete bilateral cleft of the lip and alveolar process of the maxillae with complete maxillae with complete bilateral cleft of the anterior and posterior bilateral cleft of the anterior and posterior palate.palate.

CLASSIFICATION OF CLPCLASSIFICATION OF CLP• Oblique facial cleft:Oblique facial cleft:

It results from failure It results from failure of the maxillary of the maxillary prominence to fuse with prominence to fuse with the lateral nasal the lateral nasal prominence.prominence.

The cleft extends from The cleft extends from the upper lip to median the upper lip to median angle of eye. angle of eye.

It is nearly always It is nearly always associated with Cleft associated with Cleft Palate. Palate.

SOURCE: quizlet.com

• Lateral facial cleft/ Lateral facial cleft/ macrostomia:macrostomia:

Inadequate fusion of maxillary Inadequate fusion of maxillary and mandibular processes and mandibular processes leads to macrostomia.leads to macrostomia.

• Excessive mouth opening;Excessive mouth opening;

• large oral aperture.large oral aperture.

• Unilateral or bilateral,Unilateral or bilateral,

• extending from the extending from the commissure towards the ear.commissure towards the ear.

• may occur as an isolated may occur as an isolated defect, but more often it is defect, but more often it is associated with other associated with other disorders e.g. Mandibulofacial disorders e.g. Mandibulofacial dysostosis, hemifacial dysostosis, hemifacial microsomia, Amniotic rupture microsomia, Amniotic rupture

sequence.sequence.

SOURCE: openi.nlm.nih.gov

EMBRYOLOGICAL CLASSIFICATION OF CLEFT EMBRYOLOGICAL CLASSIFICATION OF CLEFT LIP/PALATE: KERNAHAN AND STARK LIP/PALATE: KERNAHAN AND STARK SYMBOLIC CLASSIFICATIONSYMBOLIC CLASSIFICATIONThis classification system provides a This classification system provides a

graphic classification scheme using a graphic classification scheme using a Y-configuration, which can be divided Y-configuration, which can be divided into 9 areas:into 9 areas:

• • Areas 1 and 4 – LipAreas 1 and 4 – Lip• • Areas 2 and 5 – AlveolusAreas 2 and 5 – Alveolus• • Areas 3 and 6 – Palate between the Areas 3 and 6 – Palate between the

alveolus and the incisive foramenalveolus and the incisive foramen• • Areas 7 and 8 – Hard palateAreas 7 and 8 – Hard palate• • Area 9 – Soft palateArea 9 – Soft palate

EMBRYOLOGICAL CLASSIFICATION OF CLEFT EMBRYOLOGICAL CLASSIFICATION OF CLEFT LIP/PALATE: KERNAHAN AND STARK SYMBOLIC LIP/PALATE: KERNAHAN AND STARK SYMBOLIC CLASSIFICATIONCLASSIFICATION

SOURCE:

quizlet.com

• Group I: cleft of the primary palate onlyGroup I: cleft of the primary palate only– Unilateral Unilateral – BilateralBilateral– TotalTotal– SubtotalSubtotal

• Group II: cleft of the secondary palate onlyGroup II: cleft of the secondary palate only– Total Total – SubtotalSubtotal– Sub mucousSub mucous

• Group III: cleft of both primary & secondary palateGroup III: cleft of both primary & secondary palate– Unilateral – total, subtotalUnilateral – total, subtotal– Median – total, subtotalMedian – total, subtotal– Bilateral – total, subtotalBilateral – total, subtotal

Clefts can be non-syndromic, isolated defects or Clefts can be non-syndromic, isolated defects or may be present with cleft associated anomalies.may be present with cleft associated anomalies.

• According to a study done in a Tertiary Care According to a study done in a Tertiary Care centre in India for cleft associated centre in India for cleft associated anomalies, anomalies, Of the 2600 cleft patients, 198 had Of the 2600 cleft patients, 198 had associated anomalies. Associated anomalies were associated anomalies. Associated anomalies were more frequent in patients with cleft lip and palate more frequent in patients with cleft lip and palate (32%) than in patients with cleft lip alone (11%) (32%) than in patients with cleft lip alone (11%) or patients with cleft palate alone (22%). or patients with cleft palate alone (22%). A A significant percentage of patients (36%, 72 / 198) significant percentage of patients (36%, 72 / 198) with associated anomalies were syndromic.with associated anomalies were syndromic. The The common syndromes were Van der Woude common syndromes were Van der Woude syndrome, Median facial dysplasia syndrome and syndrome, Median facial dysplasia syndrome and Pierre Robin Sequence.Pierre Robin Sequence.

COMMON SYNDROMES ASSOCIATED WITH COMMON SYNDROMES ASSOCIATED WITH ORO-FACIAL CLEFT (OFC)ORO-FACIAL CLEFT (OFC)• Van der Woude SyndromeVan der Woude Syndrome transmitted as an autosomal dominant transmitted as an autosomal dominant bilaterally located lower lip pits at the junction of dry and bilaterally located lower lip pits at the junction of dry and

wet vermilion. wet vermilion. The associated features are hypodontia, missing maxillary The associated features are hypodontia, missing maxillary

or mandibular second premolar teeth, absent maxillary or mandibular second premolar teeth, absent maxillary lateral incisor and ankyloglossia. lateral incisor and ankyloglossia.

The orofacial anomalies are due The orofacial anomalies are due to an abnormal fusion of the to an abnormal fusion of the palate and lips, at days 30-50 palate and lips, at days 30-50 postconception. The gene postconception. The gene responsible for this syndrome responsible for this syndrome has been localized to has been localized to chromosome band chromosome band 1q32 1q32 whose whose effect can be influenced by a effect can be influenced by a second second modifying gene at modifying gene at chromosome band 17p11chromosome band 17p11..

SOURCE: Neville

• Pierre Robin sequence Pierre Robin sequence triad of glossoptosis, triad of glossoptosis, micrognathia and micrognathia and airway obstruction. airway obstruction. The theory behind this The theory behind this sequence is: sequence is: the initial event is mandibular the initial event is mandibular hypoplasia between the hypoplasia between the 77th &th & 8 8thth wks of gestation wks of gestation, , which keeps the tongue high in the oral cavity which keeps the tongue high in the oral cavity

preventing closure of palatal shelves preventing closure of palatal shelves resulting in formation of classic inverted U-resulting in formation of classic inverted U-shaped cleft palate. shaped cleft palate.

Oligohydramnios leads to deformation of Oligohydramnios leads to deformation of the chin and subsequent impaction of the the chin and subsequent impaction of the tongue between palatal shelves. tongue between palatal shelves.

Source: http://php.med.unsw.edu.au/embryology/index.php?title=BGDB_Face_and_Ear_-_Abnormalities

• Median facial dysplasiaMedian facial dysplasiamidline facial deficiencies in the midline facial deficiencies in the

presence of a unilateral or bilateral presence of a unilateral or bilateral cleft lip with or without cleft palate.cleft lip with or without cleft palate.

early dish face, Class III occlusion early dish face, Class III occlusion and severe maxillary hypoplasia. and severe maxillary hypoplasia.

Early recognition of these subgroups Early recognition of these subgroups of patients helps to plan the course of patients helps to plan the course of treatment.of treatment.

• Fetal Alcohol Syndrome (FAS)Fetal Alcohol Syndrome (FAS) A condition characterized by pre- and postnatal growth A condition characterized by pre- and postnatal growth

deficiencies, facial abnormalities, and defects of the central deficiencies, facial abnormalities, and defects of the central nervous system. nervous system.

primarily affects the primarily affects the midlinemidline of the face, altering of the face, altering morphology of the morphology of the eyes, nose, and lipseyes, nose, and lips..

Ethanol damage to cranial neural crest cells (CNCC) early in Ethanol damage to cranial neural crest cells (CNCC) early in embryonic development is responsible for these minor embryonic development is responsible for these minor midline abnormalities.midline abnormalities.

Facial features:Facial features:• MicrocephalyMicrocephaly• Palpebral fissure - short opening of eyePalpebral fissure - short opening of eye• Epicanthal foldsEpicanthal folds• Midface - flatMidface - flat• Nasal Bridge - lowNasal Bridge - low• Philtrum - Indistinct, vertical grooves between nose and Philtrum - Indistinct, vertical grooves between nose and

mouthmouth• Upper Lip - thinUpper Lip - thin• Micrognathia Micrognathia • Ears - curve at top. A part of outer ear is underdeveloped Ears - curve at top. A part of outer ear is underdeveloped

and folded over parallel to curve beneath. Gives the and folded over parallel to curve beneath. Gives the appearance of a "railroad trackappearance of a "railroad track

Source: http://php.med.unsw.edu.au/embryology/index.php?title=BGDB_Face_and_Ear_-_Abnormalities

• Treacher Collins syndrome Treacher Collins syndrome (TCS)(TCS)

A rare autosomal dominant A rare autosomal dominant craniofacial disorder (1:50,000) craniofacial disorder (1:50,000) caused by frameshift deletions or caused by frameshift deletions or duplications in the duplications in the TCOF1 geneTCOF1 gene..

hypoplasia of the mandible and hypoplasia of the mandible and zygomatic complexzygomatic complex

down-slanting palpebral fissuresdown-slanting palpebral fissures coloboma of the lower eyelidcoloboma of the lower eyelid absence of eyelashes medial to absence of eyelashes medial to

the defectthe defect external and middle ear external and middle ear

malformationmalformation

conductive hearing lossconductive hearing loss SOURCE: Shafer’s Textbook of oralpathology

TREATMENT OF CLEFTSTREATMENT OF CLEFTS• SURGICALSURGICALCLEFT LIP REPAIRCLEFT LIP REPAIR• Timing-Timing- the “rule of 10” as a guide for timing of the “rule of 10” as a guide for timing of

lip & anterior palate repair. At the time of lip & anterior palate repair. At the time of operation: operation:

the hemoglobin should be 10 gm percent, the hemoglobin should be 10 gm percent, age approximately 10 weeks, age approximately 10 weeks, weight 10lbs (4.54 kg) & weight 10lbs (4.54 kg) & TLC < 10,000 per cubic mmTLC < 10,000 per cubic mm

CLEFT PALATE REPAIRCLEFT PALATE REPAIR• Timing- Timing- Effect of the cleft palate repair on mid Effect of the cleft palate repair on mid

facial growth, speech & dental occlusion greatly facial growth, speech & dental occlusion greatly influences the timing of repair.influences the timing of repair.

• the repair of palate between the repair of palate between 1-1 ½ year of age1-1 ½ year of age gives the best balanced result.gives the best balanced result.

• PROSTHODONTIC MANAGEMENT PROSTHODONTIC MANAGEMENT OF CLEFT PALATEOF CLEFT PALATE

An obturator can be given An obturator can be given which is a prosthesis used to close a which is a prosthesis used to close a congenital or acquired tissue opening congenital or acquired tissue opening primarily in hard palate and primarily in hard palate and contiguous alveolar structures.contiguous alveolar structures.

Other congenital Other congenital abnormalities of jaws are:abnormalities of jaws are:

• AGNATHIAAGNATHIA Maxilla or Mandible may be totally or partially absent owing Maxilla or Mandible may be totally or partially absent owing

to failure of migration of neural crest mesenchyme into the to failure of migration of neural crest mesenchyme into the maxillary prominence at the maxillary prominence at the 4th-5th wk4th-5th wk of gestation/ of gestation/ postconception. postconception.

The condition is rare and lethal. It is associated with The condition is rare and lethal. It is associated with abnormally positioned ears.abnormally positioned ears.

• RETROGNATHIARETROGNATHIA It may be due to TMJ ankylosis, condylar hypoplasia or as a It may be due to TMJ ankylosis, condylar hypoplasia or as a

feature among various syndromes. feature among various syndromes.

• MICROSTOMIAMICROSTOMIA Too much fusion of maxillary and mandibular processes Too much fusion of maxillary and mandibular processes

may lead to microstomia.may lead to microstomia.

FACIAL HEMI FACIAL HEMI HYPERTROPHY and ATROPHYHYPERTROPHY and ATROPHY

Source:Neville

DOUBLE LIPDOUBLE LIP

It is a rare congenital It is a rare congenital oral anomaly oral anomaly characterized by a characterized by a redundant fold of tissue redundant fold of tissue on the mucosal side of on the mucosal side of the lip. It arises during the lip. It arises during the the second to third second to third monthmonth of gestation as a of gestation as a result of persistence of result of persistence of the sulcus between the the sulcus between the pars glabrosa and pars pars glabrosa and pars villosa of the lip. Upper villosa of the lip. Upper lip is more commonly lip is more commonly involved as compared to involved as compared to lower lip.lower lip.

Source:Neville

FISSURAL OR INCLUSION FISSURAL OR INCLUSION CYSTS CYSTS • Median anterior maxillary cyst Median anterior maxillary cyst

(nasopalatine duct cyst(nasopalatine duct cyst):):Features:Features: Males are more commonly affectedMales are more commonly affected Small cysts are asymptomatic; Small cysts are asymptomatic; large cysts include symptoms like large cysts include symptoms like pain, swelling, discharge.pain, swelling, discharge. A salty mouth taste with A salty mouth taste with devitalization of pulp of associated teethdevitalization of pulp of associated teeth• Median palatal cystMedian palatal cyst It arises from the epithelium entrapped along the It arises from the epithelium entrapped along the

line of fusion of the palatal processes of maxilla.line of fusion of the palatal processes of maxilla. It is located in the midline of the hard palate It is located in the midline of the hard palate between lateral processes.between lateral processes.

Radiographic features show radiolucency Radiographic features show radiolucency opposite to bicuspid and molar regionopposite to bicuspid and molar region

Source:Neville

• Globulomaxillary cystGlobulomaxillary cyst

Radiographic features:

Inverted pear shaped Inverted pear shaped

radiolucent area between radiolucent area between

the roots of maxillary lateralthe roots of maxillary lateral

incisor and cuspid causing incisor and cuspid causing

divergence of roots.divergence of roots.

Source:Shafer’s

• Nasoalveolar cyst/ klestadt’s cystNasoalveolar cyst/ klestadt’s cyst

It is not found within the bone; it arises at It is not found within the bone; it arises at the junction of globular process as a result of the junction of globular process as a result of entrapped epithelium along the line of fusion.entrapped epithelium along the line of fusion.

• It may cause swelling in the mucolabial fold as It may cause swelling in the mucolabial fold as well as in the floor of nose, being located near well as in the floor of nose, being located near the attachment of the ala over the maxilla.the attachment of the ala over the maxilla.

Source: Neville

EPSTEIN’S PEARLS & BOHN’S EPSTEIN’S PEARLS & BOHN’S NODULESNODULES

SOURCE: Shafer’s textbook of oral pathology

EPSTEIN’S PEARLS

CONGENITAL ABNORMALITIES OF SALIVARY CONGENITAL ABNORMALITIES OF SALIVARY GLANDSGLANDS

• Aplasia Aplasia (agenesis)(agenesis) Any one or group of salivary glands may be absent.Any one or group of salivary glands may be absent. It may be unilateral or bilateral.It may be unilateral or bilateral. Its etiology is unknown; it is sometimes associated withIts etiology is unknown; it is sometimes associated with

Hemifacial microsomia, LADD, mandibulofacial dysostosisHemifacial microsomia, LADD, mandibulofacial dysostosis TreatmentTreatment Its treatment is supportive and directed at relieving Its treatment is supportive and directed at relieving

xerostomia and its effect.xerostomia and its effect.

• AtresiaAtresia Absence of one or more of major salivary gland ducts. Absence of one or more of major salivary gland ducts. • AberrancyAberrancy Occurrence of accessory salivary gland farther than Occurrence of accessory salivary gland farther than

their usual locationtheir usual location It is of no clinical significanceIt is of no clinical significance

CONGENITAL ANOMALIES OF CONGENITAL ANOMALIES OF TONGUETONGUE

• macroglossiamacroglossia– muscle hypertrophymuscle hypertrophy– congenital congenital

haemangioma or haemangioma or lymphangiomalymphangioma

– Down´s syndromeDown´s syndrome– lingual thyroidlingual thyroid

Source: Neville

CONGENITAL ANOMALIES OF TONGUECONGENITAL ANOMALIES OF TONGUE

• Cleft tongue/ Bifid tongue: Cleft tongue/ Bifid tongue:

www.scielo.cl

• Ankyloglossia:Ankyloglossia:

• Ankyloglossia superior/ Ankyloglossia superior/ glossopalatine ankylosis:glossopalatine ankylosis:

• Median rhomboid glossitis:Median rhomboid glossitis:

• Thyroid tissue may be present in the Thyroid tissue may be present in the tongue either under mucosa or within tongue either under mucosa or within the muscles.the muscles.

From: Neville

• Thyroglossal tract cystThyroglossal tract cyst Remnants of thyroglossal duct may Remnants of thyroglossal duct may form cysts at the base of tongue. form cysts at the base of tongue. Treatment: Sistrunk OperationSistrunk Operation i.e. excision of the whole thyroglossal tract, i.e. excision of the whole thyroglossal tract,

(which involves removal of the body of hyoid bone (which involves removal of the body of hyoid bone and suprahyoid tract through the tongue base to and suprahyoid tract through the tongue base to the vallecula at the site of the primitive foramen the vallecula at the site of the primitive foramen caecum), together with core of tissue on either caecum), together with core of tissue on either side. side.

• Fissured tongue:Fissured tongue: Surface of tongue may show Surface of tongue may show fissuresfissures

(www.radiologyassistant.nl)(www.radiologyassistant.nl)

CONGENITAL ABNORMALITIES OF CONGENITAL ABNORMALITIES OF NOSENOSE• Nasal clefts:Nasal clefts: Nose may be bifid or Nose may be bifid or

one half may be absent. one half may be absent. median cleft, median cleft, lateral cleftlateral cleft

Depending on the defect’s Depending on the defect’s

severity, reconstruction severity, reconstruction

may be warranted.may be warranted.

SOURCE: http://emedicine.medscape.com/article/837236-overview#a30

Holoprosencephaly with proboscisHoloprosencephaly with proboscis

   

SOURCE: SOURCE: markitscience.blogspot.com

• cylindrical projection or cylindrical projection or proboscis/congenital tubular nose. proboscis/congenital tubular nose.

Etiology and embryogenesis:Etiology and embryogenesis: the external nose fails to the external nose fails to develop on one side and is replaced by a tubular develop on one side and is replaced by a tubular structure emanating from the medial canthus. structure emanating from the medial canthus.

The condition is caused by the The condition is caused by the developmental failure or absence of medial and lateral developmental failure or absence of medial and lateral nasal processes, resulting in fusion of the maxillary nasal processes, resulting in fusion of the maxillary process with the contralateral nasal process.process with the contralateral nasal process.

Clinical presentation and managementClinical presentation and management absence of the nasal cavity and paranasal sinuses on absence of the nasal cavity and paranasal sinuses on

one side. one side. The nasolacrimal duct ends blindly. Proboscis lateralis The nasolacrimal duct ends blindly. Proboscis lateralis

may be associated with other congenital anomalies, may be associated with other congenital anomalies, particularly those of the CNS.particularly those of the CNS.

SurgicalSurgical treatment involves rerouting of the treatment involves rerouting of the nasolacrimal duct and excision of the tubular deformity. nasolacrimal duct and excision of the tubular deformity. Reconstruction may be a staged procedure, Reconstruction may be a staged procedure, commencing during adolescence.commencing during adolescence.

•Supernumerary, Supernumerary, or accessory, or accessory, nostrils: nostrils:

can be associated with can be associated with facial clefts and can be facial clefts and can be unilateral (most cases) or unilateral (most cases) or bilateral. The accessory bilateral. The accessory nostril may communicate nostril may communicate with the ipsilateral nasal with the ipsilateral nasal cavity. cavity.

TREATMENT: Surgery with TREATMENT: Surgery with an early excision of the an early excision of the fistulous or blind tract or fistulous or blind tract or with a fistulorhinostomy. with a fistulorhinostomy.

SOURCE: http://emedicine.medscape.com/article/837236-overview#a30

•ArrhiniaArrhinia Etiology and Etiology and

embryogenesis: embryogenesis: often associated with often associated with anomalies of the anomalies of the ocular and central ocular and central nervous systems. It nervous systems. It has been associated has been associated with inversion and with inversion and trisomy of trisomy of chromosome 9.chromosome 9.

•PolyrrhiniaPolyrrhinia• Two completely Two completely

formed noses. formed noses.

• Duplication of media Duplication of media nasal processes during nasal processes during embryogenesis. embryogenesis.

• Management consists Management consists of excision of the of excision of the medial halves of each medial halves of each nose.nose.

SOURCE: http://emedicine.medscape.com/article/837236-overview#a30

CONGENITAL CONGENITAL ABNORMALITIES OF THE ABNORMALITIES OF THE NASAL CAVITYNASAL CAVITY• Atresia:Atresia: There may be atresia of cavity at the anterior There may be atresia of cavity at the anterior

nares or at the posterior nares or in the cavity proper. This nares or at the posterior nares or in the cavity proper. This may be unilateral or bilateral. It may be due to failure of may be unilateral or bilateral. It may be due to failure of rupture of bucconasal membrane (nasal fin) of nasal sac rupture of bucconasal membrane (nasal fin) of nasal sac (8th week) for posterior nares; and blind nasal sac ventrally (8th week) for posterior nares; and blind nasal sac ventrally for anterior nares.for anterior nares.

• Congenital defects in the cribriform plate of the ethmoid Congenital defects in the cribriform plate of the ethmoid bone may lead to a bone may lead to a communication between cranial cavity communication between cranial cavity and nose.and nose.

• Nasal septumNasal septum may be absent or may be deviated. may be absent or may be deviated. (All these malformations occur due to defective (All these malformations occur due to defective

development of frontonasal process.)development of frontonasal process.)

• Nasal cavity may communicate with the mouthNasal cavity may communicate with the mouth due to due to failure of palatine closure.failure of palatine closure.

CONCLUSIONCONCLUSION

In the past, all types of congenital malformations In the past, all types of congenital malformations were taken as God’s will or Nature’s fancy. But were taken as God’s will or Nature’s fancy. But the contribution of medical investigators, the contribution of medical investigators, geneticists and biochemists have now broadened geneticists and biochemists have now broadened and deepened the knowledge of prenatal and deepened the knowledge of prenatal pathology. With the ongoing research in these pathology. With the ongoing research in these areas, it is now possible to prevent a few areas, it is now possible to prevent a few congenital abnormalities. Also if any abnormality congenital abnormalities. Also if any abnormality is diagnosed at an earlier stage, appropriate is diagnosed at an earlier stage, appropriate decision regarding the future treatment can be decision regarding the future treatment can be taken. taken.