DEVELOPMENTAL

DISTURBANCES

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DEVELOPMENTAL DISTURBANCES OF JAWS
Agnathia (Otocephaly)
• hypoplasia or absence of the mandible or maxilla

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Micrognathia
• a small jaw ( either the maxilla or the mandible )
• True and apparent micrognathia
• Micrognathia of the maxilla occurs due to a deficiency in the
premaxillary area
• Mandibular micrognathia bird facies appearance (Pierre Robin
syndrome)
• The acquired type of micrognathia is of postnatal origin ( disturbance in
the TMJ (caused by trauma or by infection)

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Pierre Robin Syndrome (Robin Sequence, Pierre Robin Anomalad, Robin
Complexes)
• a triad of micrognathia/retrognathia, glossoptosis(AIRWAY
OBSTRUCTION) and cleft palate

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Treacher collins syndrome
Mandibulofacial dysostosis or Franceschetti Syndrome
• Syndrome of first and second pharyngeal arches
• deformed ears, eyelids, cheekbones, and jawbones.
zygoauromandibular dysplasia.
• bird-like or fish-like face

Underdevelopment of
the zygomatic complex,
cheekbones, jaws,
palate  breathing and
feeding difficulties.

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Hemifacial microsomia (oculoauriculovertebral dysplasia-OAV or Goldenhar
syndrome or first and second branchial arch syndrome)
• Treacher collins syndrome confused with hemifacial microsomia.
• Hemifacial microsomia is unilateral and related to an abnormality in
vascular supply of the head.

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Facial Hemihypertrophy or hemihyperplasia
• asymmetric overgrowth of one or more body parts
• It actually represents a hyperplasia of the tissues rather than a
hypertrophy.
• Anatomic classification:
1. Complex hemihyperplasia: 50% of the body (at least one arm and one leg)
2. Simple hemihyperplasia: involvement of a single limb.
3. Hemifacial hyperplasia: involvement of one side of the face.
• unilateral macroglossia  true muscular hypertrophy was not found.
• premature eruption (erupt more rapidly )
• > 50% increased size of permanent tooth

• D/d: neurofibromatosis and fibrous dysplasia of the jaws lack of effect

on tooth size and rate of eruption.
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Facial Hemiatrophy (Parry-Romberg Syndrome, Progressive Facial
Hemiatrophy)
• slowly progressive atrophy of the soft tissues of half the face, which is
characterized by progressive wasting of subcutaneous fat and
accompanied by atrophy of skin, cartilage, bone and muscle.
• presence of antinuclear antibodies in his serum suggest a form of
localized scleroderma.
• most common early sign is a painless cleft, the 'coup de sabre’. This
marks the boundary between normal and atrophic tissue.

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DEVELOPMENTAL DISTURBANCES OF LIPS AND PALATE

Lip pit: recorded on the upper lip, lower lip or the oral commissure
• developmental defects in the paramedian portion of the vermilion of the
lip unilateral/bilateral
• Associated developmental defects are
• Van der Woude′s syndrome
• popliteal pterygium syndrome
• oral-facial-digital syndrome

Two shallow paramedian depressions on the vermilion border. There was no evidence of a
sinus tract or fistula and no associated cleft lip or cleft palate
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Commissural lip pits
• Small mucosal invaginations at the corner of the mouth

lip or commissural fistula/sinus

• Lip or commissural pits associated with accessory salivary glands that empty into
the pits
• Mucous secretion exude from the base of the pit
• Unilateral/bilateral
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van der Woude Syndrome (Cleft Lip Syndrome, Lip Pit Syndrome, Dimpled
Papillae of the Lip)
• Consists of cleft lip or cleft palate + pits of lower lip
• due to an abnormal fusion of the palate and lips, at days 30-50
postconception.

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Double lip
• A fold of excess tissue on the inner mucosal aspect of the lip
• may be congenital or acquired (trauma or habits such as sucking lip
between diastema or between ill fitting dentures)
• Congenital type is due to the persistence of the sulcus between the pars
glabarosa and the pars villosa more commonly in upper lip
• It can occur in isolation or as a part of Ascher’s syndrome.

A combination of
blepharochalasis
( swelling of eyelids),
double lip and non-toxic
thyroid enlargement.

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CHEILITIS GRANULOMATOSA
• Swelling of lip due to Granulomatous
inflammation
• Miescher cheilitis: granulomatous changes
confined to the lip
• Aka Miescher-Melkersson-Rosenthal syndrome
• Triad:
1. Cheilitis
2. Facial nerve palsy
3. Plicated tongue(fissured tongue)
• A manifestation of Crohn disease
• noncaseating granulomatous inflammation is
characteristic. (h/p similar to sarcoidosis)
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CHELITIS GLANDULARIS (Actinic chelitis)
• Progressive enlargement and eversion of lower labial mucosa
obliteration of mucosal-vermilion interface.
• disorder of unknown etiology characterized by inflammation of the
minor salivary glands of the lower lip.
• Chronic UV exposure Erosion + ulceration + crusting  OSCC
• Lip incisional biopsy is indicated to rule out different granulomatous
diseases that leads to lip enlargement. wedge of lip tissue (epithelium
+ CT having submucosal salivary glands)

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CHELITIS GLANDULARIS (Actinic chelitis)
CLASSIFICATION
1. Simple type: Multiple painless, papules with central depression
2. Superficial (suppurative) type: aka Baelz disease  Painless indurated
swelling of lip with shallow ulceration and crusting
3. Deep suppurative type: Deep seated abscess + sinus tract

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DEVELOPMENTAL DISTURBANCES OF ORAL MUCOSA
Pigmented Cellular Naevus (Oral Melanocytic Naevus, Mole)
• Melanocytic nevi are benign proliferations of a type of melanocyte
known as a "nevus cell.
• On the basis of the histologic location of the naevus cells, oral acquired
naevi is classified into
1. Junctional naevus - when naevus cells are limited to the basal cell layer
2. Compound naevus - naevus cells are in the epidermis and dermis
3. Intra mucosal naevus ( common mole) - entirely in the dermis: most common

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• The naevus cells are derived from neural crest
• Nevus cells are rounded-up, nondendritic, pigment-producing cells that
are derived from melanocytes.
• Naevus cells are grouped in sheets or cords which are called nest or
theque.

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• Congenital naevi are typed into
1. 'small' and : usually 3-5 cm
2. 'garment' naevi : greater than 10 cm in diameter and can cover large areas

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• In the junctional naevus shows cells crossing the junction and growing
down into the connective tissue - the so-called abtropfung or 'dropping
off effect.
• This 'junctional activity' has serious implications  can undergo
transformation into malignant melanomas.

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Labial and Oral Melanotic Macule
• A focal area of melanin deposition, either as a response to local chronic
conditions (mechanical trauma, tobacco smoking, chronic autoimmune
mucositis), racial background or systemic medications (chloroquine).
• melanotic macule located on the vermilion border (most common site of
oral melanotic macule) labial melanotic macule
• smoker's melanosis  on gingival or buccal mucosa

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Hereditary Intestinal Polyposis Syndrome (Peutz-Jeghers Syndrome)

• autosomal dominant transmission

• Intestinal Hamartomatous Polyps + Mucocutaneous Melanocytic
Macules cancer primarily is of the GI tract

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Fordyce Granules (Fordyce disease)

• heterotopic collections of sebaceous glands

• appear as small yellow spots
• bilaterally
• symmetrical pattern

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Focal Epithelial Hyperplasia (Heck disease)
• multifocal epithelial hyperplasia (MEH)
• benign oral condition
• induced by infection with human papillomavirus(HPV-13 & 32)
• Contagious
• Young / Middle aged
• Most commonly in labial/buccal mucosa
• Lesions: Papillary/smooth flat top, well demarcated plaques
• H/F: Mucosa 8-10 times thicker (Acanthosis & hyperplasia of spinous layer)
• Koilocytic changes of superficial keratinocytes
• Presence of Mitosoid cell, cell with collapsed nucleus resembling a mitotic figure
• lack of pronounced surface projections and the lack of connective tissue cores
like in sq. papilloma
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DEVELOPMENTAL DISTURBANCES OF GINGIVA
• Fibromatosis Gingivae (Elephantiasis Gingivae, Congenital Macrogingivae)
• Diffuse fibrous overgrowth of gingival tissues
• Association with hypertrichosis seen
• Birth or young children (usually during perm incisor eruption)

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Retrocuspid Papilla
• soft elevated mucosal nodule on lingual mucosa of mandibular cuspids
• Commonly bilateral in children
• Treatment: normal anatomic str., Regresses with age, no treatment
required

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DEVELOPMENTAL DISTURBANCES OF TONGUE
Aglossia & Microglossia Syndrome:
• Absence of tongue or presence of rudimentary tongue
• Usually associated with malformations in the extremities

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Macroglossia (Tongue Hypertrophy)
• Etiology: Generalized and Localized, Meyer et al
• Localized:
• Congenital - Hemangioma, Lymphangioma and Lingual thyroid
• Inflammatory - Tuberculosis, Actinomycosis, Dental infection, Syphilitic gumma, Riga disease,
Ranula, and Sublingual calculus
• Traumatic -Dental irritation, Hematoma, and Postoperative edema
• Neoplastic lesions-Carcinoma and Sarcoma, Granular cell tumor, Neurofibroma, Leiomyoma
and Lipoma.
• Generalized:
• Congenital - Primary idiopathic macroglossia, Cretinism,
• Hemangioma, Lymphangioma, Beckwith-Weidmann Syndrome, Down Syndrome,
Mucopolysaccharidoses.
• Inflammatory - Chronic glossitis
• Traumatic - Postoperative edema
• Metabolic -Myxedema, Amyloidosis, Steroid therapy, and Acromegaly 27
Ankyloglossia / Short frenum / Tongue tie
• inferior frenulum attaches to the bottom of the tongue and subsequently
restricts free movement of the tongue
• ankyloglossia may occur as a result of the fusion of the lingual frenum to
the floor of the mouth.
• Partial ankyloglossia is more common condition, because complete
fusion rarely occurs(complete fusion of ventral surface to floor of
mouth).

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Cleft-tongue:
• The tongue has a cleft running right across in the center of the tongue
anterio-posteriorly.
• Complete clefting (Diglossia or bifid tongue) due to lack of merging of the
lateral swelling
• A partially cleft tongue is more common  manifested simply as a deep
groove in the midline of the dorsal surface
• Partial clefting is a common feature in the oro-facial-digital syndrome

Bifid tongue in association with cleft palate has been

reported.
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Fissured Tongue (Scrotal Tongue, Plicated tongue, Cerebriform tongue)
• Fissure or grooves with varying depths (up to 6 mm) on the dorsal and
lateral surfaces.  may be interconnected separates into several
lobules
• Syndromes:
• Down syndrome is frequent
• Miescher-Melkersson-Rosenthal syndrome
1. Persistent or recurring lip or facial swelling
2. Intermittent 7th (facial) nerve paralysis
3. Fissured tongue
• H/P: diagnosis by clinically, biopsy is rarely done.
• loss of filiform papillae of the surface mucosa

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GEOGRAPHIC TONGUE (Benign migratory glossitis, Erythema migrans,
Psoriasiform mucositis):
• a psoriasiform mucositis of the dorsum of the tongue.
• Benign condition
• constantly changing pattern of serpiginous hyperkeratotic white lines
surrounding areas of smooth, depapillated mucosa, area of eryhema
atrophy of the filiform papillae of the tongue
• Patient Complaints: Burning sensation or irritation of the tongue with
hot or spicy foods

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Histologic Features of Benign Migratory Glossitis
• Similar to psoriasis
• biopsy is taken from a prominent serpiginous line at the periphery of a
depapillated patch.
• At the periphery, elongation of the rete ridges is noted with associated
hyperparakeratosis
• Toward the center of the lesion, corresponding to the erythematous area
clinically, loss of filiform papillae with migration and clustering of
neutrophils within the epithelium
• A thickened layer of keratin is infiltrated with neutrophils in the epithelium
• These inflammatory cells often produce small microabscesses, called
Monro's abscesses.
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Median Rhomboid Glossitis / Central Papillary Atrophy /Posterior Lingual
Papillary Atrophy
• Focal area of susceptibility to recurring or chronic atrophic candidiasis
Prompting the use of Posterior Midline Atrophic Candidiasis as a more
appropriate diagnostic term
• The embryonic tongue is formed by two lateral processes (lingual
tubercles) meeting in the midline During this period of fusion posterior
dorsal point of fusion is defective, leaving a rhomboid-shaped, smooth
erythematous mucosa lacking in papillae or taste buds.

• Just anterior to the V-shaped grouping of the circumvalate papillae

• long axis of the rhomboid red depapillation is in the anterior-
posterior direction.
• The erythematous clinical appearance is due to the absence of
filiform papillae (NOT local inflammatory changes) 33
Median Rhomboid Glossitis
• Typical lesions are less than 2 cm. in greatest dimension
• Infected cases may demonstrate a midline soft palate erythema in the area
of routine contact with tongue: kissing lesion.
• Lesions associated with atrophic candidiasis are usually more
erythematous. but some respond with excess keratin production and,
therefore, show a white surface change.
• It is recommended that the patient be treated with topical antifungals
prior to biopsy of a suspected median rhomboid glossitis
• Chronic candida infection may result in excess surface keratin or extreme
elongation of rete processes

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HAIRY TONGUE (Black Hairy Tongue / Lingua Villosa Nigra)
• defective desquamation of the filiform papillae
Etiology:
• A hypertrophy of filiform papillae on the dorsal surface of the tongue, with a lack
of normal desquamation (usually due to a lack of mechanical stimulation and
debridement).
• Contributory factors: poor oral hygiene, tobacco use, coffee or tea drinking, the use
of medications (especially broad-spectrum antibiotics) .
Clinical features:
• Normal filiform papillae 1 mm in length, in hairy tongue more than 15 mm in
length.
• Bacterial and fungal overgrowth play a role in the color of the tongue.
• In extreme cases of hairy tongue, a blast of compressed air results in the papillae
"waving in the breeze." ORAL HAIRY LEUKOPLAKIA-EBV ??? 35
DEVELOPEMENTAL ANOMALIES OF SHAPE OF TEEETH
• Germination: (Unsuccessful attempt of) division of a single tooth before
calcification.  incomplete formation of two teeth. two completely or
incompletely separated crown with a single root and root canal. (single
tooth)*

• Twinning: division of a single tooth into one normal and one

supernumerary tooth. number of teeth is more than normal.

• Fusion: fusion of two tooth germs more common in deciduous teeth.

And anterior teeth.
1. Before calcification: completely fusion no. of teeth one less than normal.
2. After calcification: fusion of root only single tooth*
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• Gemination and fusion are anomalies of shape with close similarity but
with different etiology.
• They are commonly referred to as “Double teeth”.
• These anomalies may develop during tooth bud morpho-differentiation.

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Concrescence:
• It is a type of fusion which occurs after complete root formation.
• The teeth are united by cementum only.
• It occurs due to traumatic injury/crowding of teeth resulting in
resorption of interdental bone leading to approximation of adjacent
teeth roots and formation of cementum between them.

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Dilacerations:
• abnormal curvature or bent in crown or root common in maxillary
incisors and permanent teeth.
• according to the glossary of dental terms, “the deformity of a tooth due
to a disturbance between the unmineralized and mineralized portions of
the developing tooth germ.”
• The position depend on the developmental stage of the tooth at the
time of the injury.

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Talon’s cusp:
• It is a projection/protuberance arising from the cingulum area of
maxillary/Mandibular permanent incisors.
• t is so called because it resembles the eagle’s claw/ talon.
• It is composed of normal enamel, dentin and pulp horn.
• It is commonly seen in cases of Rubinstein-Taybi syndrome.
• It is more prone to caries, occlusal interferences.

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Dens-In-Dente (DENS-INVAGINTUS):
• It is an anomaly in which the localised area of tooth is
folded/invaginated pulpally.
• Most common in maxillary lateral incisors.
• It is of 2 types:
1. Coronal type: invagination/ folding occur in crown portion, caused due to
invagination of 1st crown formation.
2. Radicular type: invagination occurs in root portion of tooth due to folding of
Hertwig’s Epithelial Root Sheath(HERS) during root formation.

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Dens Evaginatus (Evaginated Odontome, Occlusal Enamel Pearl):
• It appears as an “accessory cusp” or globule of enamel on the occlusal
surface between the buccal and lingual cusp if premolars (Uni/Bi
laterally).
• It occurs due to localised evagination of IEE odontogenisis mesenchyme
into the dental organ.
• It causes occlusal interference and due to attrition/ fracture the pulp
may get exposed, so it has to endo-dentically treated.
• Clinically resembles “Talon-cusp” and has normal enamel, dentin and
pulp horn.

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Taurodontism (“bull-shaped” tooth)
• It is a condition in the body of the tooth and pulp chamber is enlarged
vertically at the expense of the roots.
• Furcation area of root is more apically placed. greater “Apico-occusal
height”.
• associated with Down’s syndrome and Klinefelter’s syndrome.
• occurs due to failure of HERS to invaginate at proper horizontal level.

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Enamel pearl:
• These are white, dome shaped, calcified projection of enamel located at
furcation are of molar teeth.
• Most commonly seen in maxillary molars.
• It arises which HERS retain its ameloblastic potential and synthesise
enamel in some focal areas, in a place of cementum.

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Stages of Tooth Development
• Unequal proliferation results in different shapes of the enamel
organ : bud, cap and bell stage.

Morphological stages of
tooth development based
on: shape of enamel
organ( not tooth germ)

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LIFE CYCLE OF
AMELOBLASTS

(a) Morphogenic
(b) organizing and
differentiating
(c) formative
(Secretory)
(d) maturative or
mineralizing
(e) protective
(f) desmolytic
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• Initiation and proliferation

Gemination
Supernumerary teeth

Oligodontia Fusion
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• Histodifferentation : dentinogenesis imperfecta or formation of atypical
dentin

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• Morphodifferentiation:

Microdontia/peg
Macrodontia lateral
Dens invaginatus

Hutchinson’s
Dens evaginatus mulberry molars 49
incisors
 Clinical Considerations

• Apposition

Amelogenesis imperfecta

Enamel hypoplasia

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Amelogenesis Imperfecta :
• Hereditary disorders of enamel formation
• Types : based on stage of enamel formation 3 types
1. Hypoplastic type: stage of matrix formation, enamel thickness is usually below
normal
2. Hypocalcification type: stage of early mineralization, enamel is of normal
thickness but enamel is soft & can be easily removed with a blunt instrument
3. Hypomaturation type: stage of maturation, enamel is of normal thickness.
Enamel does not have normal hardness & translucency & can be pierced with an
explorer tip with firm pressure,the mildest form

• Genetic cause: DXS85 at xp22 – gene location for amelogenin

• Affects both deciduous & permanent dentition
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• Snow capped teeth

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Focal enamel hypoplasia: Aka Turner’s hypoplasia
• Usually affects single tooth & is called as Turners tooth
• Occurs due to trauma or infection to deciduous teeth affect the
ameloblastic layer of permanent tooth
• Affected area of tooth appear as a zone of white or yellow brown
discoloration & pits or grooves in the tooth's enamel.

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Enamel Hypoplasia due to syphilis:
• Due to congenital syphilis
• Not pitting variety
• Permanent teeth involved
• Anterior teeth – Hutchinson’s teeth (Screw driver teeth)
• Posterior, Molars – Mulberry or Moon`s or Fournier`s molars
Enamel Hypoplasia due to Hypocalcemia (Tetany):
• Serum calcium levels – 6 to 8mg/100ml
• Pitting variety of hypoplasia
Enamel Hypoplasia due to Fluoride
• Also called Mottled Enamel
• Ingestion of fluoride containing water during tooth formation
• Severity increases with increased levels of fluoride
• 0.9-1.0 part per million, permissible level in drinking water
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Dentinogenesis Imperfecta
• Also known as ‘Hereditary opalescent dentin’ / ‘Shell teeth’
• Mutation in Dentin sialophosphoprotein (DSPP) gene- CHROMOSOME 4
• Old classification: – Sheilds et al, 1973
• Type I – Associated with osteogenesis imperfecta, blue sclera
• Type II – Without osteogenesis imperfecta , most common
• Type III – Brandywine type

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Dentin dysplasia( aka Root less teeth)
Types :
1. Type I – Radicular dentin dysplasia
• Disturbance in development of radicular dentin
• Normal crowns both structurally & morphologically
• Rx: extremely short roots,
• h/p: Remnants of pulp tissue seen between normal & abnormal dentin which gives
the appearance of “a series of sand dunes” or “lava flowing around boulders”

2. Type II – Coronal dentin dysplasia

• Disturbance in development of coronal dentin
• Rx: Permanent teeth exhibits abnormally large flame-shaped (Thistle-tube) pulp
chamber with pulp stones

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Regional odontodysplasia (Ghost teeth)

• Non-hereditary developmental disturbances

Clinical features :
• More common in permanent Maxillary central incisor
• Failure of eruption or delayed eruption of affected teeth
• Teeth are deformed, yellowish – brown in color with a soft leathery surface
Radiological features :
• lack of contrast between the enamel and dentinMarked decrease in radio
density of teeth faint radiolucent image ghostly appearance
• Enamel & dentin are very thin & radiological distinction not possible  large
pulp chamber
H/P: Enameloid conglomerates: calcified bodies found around non erupted teeth
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