Craniofacial

Anomalies
Done by:
Abdullah Abdulsamad
Ebrahim Alhajeri
Mohammed Alsenni
Ahmed Karam

Outline

Cleft lip and palate

Crouzon syndrome
Hemifacial microsomia
Treacher Collins syndrome
Cleidocranial dysplasia
Hemifacial hyperplasia
Segmental odontomaxillary dysplasia
Lingual salivary gland depression
Focal osteoporotic bone marrow

Cleft Lip and Palate

Definition
Failure of fusion of the developmental
processes of the face during fetal development
Most common of the craniofacial anomalies
CL/P: failure of fusion of the medial nasal
process with the maxillary process
CP: failure of fusion of the lateral palatal
shelves
Mechanical interference with the fusion of the
embryonic process can also cause cleft palate
(Pierre Robin sequence)

Cleft Lip and Palate

Definition continued
Associated with other abnormalities
Velocardiofacial syndrome: cleft palate and facial
and cardiac abnormalities
van der Woude syndrome: cleft lip and/or cleft palate
and lip pits

Cleft Lip and Palate

Clinical features
CL/P: most common in males
CP: more common in females
Common in Asian and Hispanics
Variation based on severity
Notch in the upper lip
Cleft lip extending into the nostril resulting in
deformity of the ala
Cleft lip extending to include the alveolar process
and palate

Alveolar process deformity most common in the

region of the lateral incisor

Cleft Lip and Palate

Clinical features continued
Increased in frequency of dental anomalies in the
region of the cleft: missing, hypoplastic, and
supernumerary teeth
Dental anomalies more prevalent in the
mandible
Palatal defects interfere with speech and
swallowing
Increased risk of recurrent middle ear infections
due to abnormal anatomy

Cleft Lip and Palate

Radiographic features
Well-defined vertical radiolucent defect in the
alveolar bone with associated dental anomalies
Absence of maxillary lateral incisor and
presence of supernumerary teeth
Involved teeth are malformed and poorly positioned

Delay in development of maxillary and

mandibular teeth with increased incidence of
hypodontia
Osseous defects extend to include the floor of the
nasal cavity

Cleft 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 Palate

Management
Management is complex, requiring coordinated
efforts of a multidisciplinary team
Clefts of the lip: repaired within the first 3
months of life
Clefts of the palate: repaired within the first year
Bone affected in the cleft side augmented with
bone grafting before replacement of missing teeth

Crouzon Syndrome
Definition
Autosomal dominant skeletal dysplasia
Premature craniosynostosis: spontaneous
mutations or familial
Coronal suture closes first

Lack of bone growth perpendicular to the

synchondroses characteristic cranial shape and
facial features

Crouzon Syndrome
Clinical features
Brachycephaly
Hypertelorism
Orbital proptosis
Early suture closure increased intracranial
pressure blindness
Nose appear prominent due to narrow and short
maxilla
Soft tissues of the nose collapse due to
hypoplastic anterior nasal spine
Maxillary arch narrow and retruded crowding

Characteristic facial features of Crouzon syndrome

Crouzon Syndrome
General radiographic features
Sclerosis and overlapping edges of cranial
sutures
Facial features may present before radiographic
evidence
Diminished facial growth
Prominent cranial markings seen as multiple
depressive radiolucencies (digital
impressions) beaten metal appearance
Radiographic features of the jaws
Maxillary hypoplasia class III malocclusion
Orbital proptosis
Prognathic mandible

Lateral and 45-degree skull views

Lateral skull view

Crouzon Syndrome
Differential diagnosis
Nonsyndromic craniosynostosis

Biomechanical factors
Environmental factors maternal smoking
Hormonal factors - hyperthyroidism
Genetic factors

Syndromic craniosynostos
Apert syndrome: fused fingers or toes
Crouzonodermoskeletal syndrome: spine
abnormalities and benign growths in the jaw

Crouzon Syndrome
Management
Features of CS worsen over time early
diagnosis permits early treatment
Early treatment allow normal brain growth and
development by preventing increased intracranial
pressure

Hemifacial Microsomia
Definition
Second most common of the developmental
anomalies
Reduced growth and development of half of the
face
Cause: abnormal development of 1st and 2nd
branchial arches

Unilateral; may involve both sides (craniofacial

microsomia)
Delayed dental eruption and hypodontia
Male predilection 3:2
Right side predominance 3:2
Associated vertebral abnormalities and epibulbar
dermoids in Goldenhar syndrome

Hemifacial Microsomia
Clinical features
Apparent at birth
Progressive failure of the affected side to grow
Aplasia or hypoplasia of the external ear
(microtia)
Diminished skull size
Midsagittal plane curved toward the affected side
Occlusal plane canted up to the affected side

Clinical photograph of infant with hemifacial

microsomia

Hemifacial Microsomia
Radiographic features
Reduction in the size of bones
Clearest in the mandible
Lack of development of the condyle, coronoid
process, or ramus
Body is reduced in size

Dentition show reduced in number or size

Reduction in the size of the muscles of
mastication and muscles of facial expression

Three-dimensional CT image of the affected side

Panoramic image and a posteroanterior skull view

Hemifacial Microsomia
Differential diagnosis
Condylar hypoplasia: does not produce ear
changes
Radiation therapy during growth
Progressive hemifacial atrophy (Parry-Romberg
syndrome): changes more severe over time, but
are not present at birth and the ears are normal

Hemifacial Microsomia
Management
Conventional orthognathic surgery or distraction
osteogenesis
Correct or prevent malocclusion
Ear abnormalities require plastic surgery
Hearing loss correction by hearing aids
Bilateral cases (Goldenhar syndrome) require
cochlear implants

Treacher Collins
Syndrome
Definition
Disorder of cranofacial development
Most common type of mandibular dysostosis
Autosomal dominant
Mutation of TCOF1 gene on chromosome 5
Incidence of 1:50,000

Treacher Collins
Syndrome
Clinical features
Underdevelopment or absence of zygomatic
bones
Downward inclination of palpebral fissures
Underdevelopment of the mandible
Malformation of the external ears
Class II anterior open bite
Partial or complete deafness

Treacher Collins Syndrome

Treacher Collins Sydrome

Radiographic features
Hypoplastic or missing zygomatic bones
Hyoplasia of the lateral aspects of the orbits
Reduction in size or absence of
Auditory canal
Mastoid air cells
Articular eminence

Treacher Collins Sydrome

Radiographic features continued
Hypoplastic maxilla and mandible
Steep mandibular angle and short ramus
Posterior-inferior positioning of the condyles
Underdevelopment or absence of maxillary
sinuses
Cervical spine anomalies (18%)
Aplasia or dysplasia of major salivary glands
(50%)

Lateral skull image

Three-dimensional CT images

Treacher Collins Sydrome

Differential diagnosis
Condylar agenesis
Hallermann-Streiff syndrome
Nager syndrome
Pierre Robin sequence

Treacher Collins Sydrome

Management
Bilateral distraction osteogenesis of the mandible
Plastic and reconstructive surgery
Hearing aids or cochlear implants
Orthodontics and orthogathic surgery

Cleidocranial Dysplasia
Definition
Malformation syndrome affecting bones and
teeth
Autosomal dominant
Mutation in the Runx2 gene on chromosome 6
Prevalence of 1:1,000,000
F:M 1:1

Cleidocranial Dysplasia
Clinical features
Affects skull, clavicles and
dentition
Short stature
Brachycephalic skull
Underdeveloped paranasal
sinuses
Delayed closure of cranial
sutures
Broadening and depression of
the bridge of the nose
Hypertelorism
Aplasia or hypoplasia of the
clavicles

Cleidocranial Dysplasia
Clinical features continued
Retention of primary dentition
Delayed eruption of permanent dentition
Paucity or absence of cellular cement
Crowding and disorganization of the developing
permanent dentition

Cleidocranial Dysplasia
General radiographic features
Brachycephaly
Delayed or failed closure of the fontanelles
Multiple wormian bones
Underdevelopment of clavicles
Radiographic features of the jaws
Underdevelopment of maxilla and paranasal
sinuses maxillary micrognathia
Patent mandibular symphysis
Increased density of alveolar bone overlying
unerupted teeth
Coarse trabecular pattern in the mandible

Chest radiograph

Lateral radiograph of the skull

Posteroanterior skull film

Three-dimensional CT reconstruction of the skull

Cleidocranial Dysplasia
Radiographic features associated with teeth
Prolonged retention of primary dentition
Multiple unerupted permanent and
supernumerary teeth dentigerous cysts

Panoramic image and Axial CT view

Cleidocranial Dysplasia
Differential diagnosis
Gardners syndrome
Pycnodysostosis

Cleidocranial Dysplasia
Management
Removal of primary and supernumerary teeth
Removal of bone overlying the normal permanent
teeth
Autotransplantation of teeth
Monitoring patients for the development of cysts
Surgical treatment of bony defects of the skull

Hemifacial Hyperplasia
Definition
Un-proportional growth of half of the face
including the maxilla alone or with the mandible
or with other parts of the body
Unknown or genetic causes (Beckwith-Weidemann
Syndrome)

Hemifacial Hyperplasia
Clinical features
Can be detected at birth or recognized later
during growing
Often occurs with other abnormalities

Mental deficiency
Skin abnormalities
Compensatory scoliosis
Genitourinary tract abnormalities
Various neoplasms (Wilm's tumor of the kidney,
adrenocortical tumor and hepatoblastoma)

Hemifacial Hyperplasia
Clinical features continued
Dentition is affected
Unilateral enlargement
Accelerated development
Premature loss of primary teeth

Tongue and alveolar bone enlargement on the

affected side

Hemifacial Hyperplasia
Radiographic features
Enlargement 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 Hyperplasia
Differential diagnosis
Hemifacial Hypoplasia (of the opposite side)
Arteriovenous aneurisms
Hemangioma
Congenital lymphedema
Condylar Hyperplasia
Monostotic fibrous dysplasia, segmental
odontomaxillary dysplasia (if maxilla only
affected)

Hemifacial Hyperplasia
Management
Referral to a medical geneticist for diagnosis and
early detection

Segmental
Odontomaxillary
Dysplasia
Definition
Developmental abnormality that affects the
posterior alveolar process of one side of the
maxilla
Unknown cause

Segmental
Odontomaxillary
Dysplasia
Clinical features
Unilateral enlargement of the alveolar process
with or without gingival enlargement and dental
anomalies
Dentition is affected
Missing (commonly premolars)
Unerupted
Hypoplastic

Ipsilateral Hypertrichosis
Skin anomalies (hyper/ hypopegmentation)
Becker's nevus
Clefting in 23% of cases
Mild facial enlargement

Segmental
Odontomaxillary
Dysplasia
Radiographic features

Increased density of maxillary alveolar process

Thick trabeculae that are vertically oriented
Missing buccal cortical plates
Larger and splayed roots of deciduous teeth (in
comparison to the unaffected side)
Enlarged crowns of deciduous and permanent
teeth
Enlarged pulp chambers
Irregular resorption of roots of deciduous teeth
Non-pneumatization of alveolar process by the
maxillary sinus
Alveolar process thus appear smaller

Delayed eruption of 2nd permanent molars

Panoramic view

Demonstration of coarse trabecular pattern

CBCT images of the

right maxilla

Segmental
Odontomaxillary
Dysplasia
Differential diagnosis
Segmental hemifacial hyperplasia
Not associated with coarse vertically oriented
trabeculae

Monostotic fibrous dysplasia

Not associated with missing teeth
Disproportionate growth of the affected side

Regional odontodysplasia
Associated with ghost teeth
Not associated with expansion and alteration in
trabecular pattern in the alveolar bone

Lingual Salivary Gland

Depression
Definition
Concavities in the lingual surface of the
mandible lined with an intact outer cortex
Location: within submandibular gland fossa
and close to inferior border of the mandible
Associated with growth of salivary glands
Adjacent to lingual surface of mandible
Near the apical region of bicuspids sublingual
glands
Medial surface of the ramus parotid gland

Unknown etiology
Age: 11-30 years old

Lingual Salivary Gland

Depression
Clinical features
Rare
Asymptomatic, impossible to palpate
Male predilection 6:1
Peak incidence: 5th and 6th decades

Lingual Salivary Gland

Depression
Radiographic features
Well-defined round, ovoid, or lobulated
radiolucency
Diameter: 1-3 cm
Location: below the inferior alveolar nerve
canal and anterior to the angle of the mandible
Margins are well-defined by a dense sclerotic
radiopaque margin
Fat tissue within the defect

Lingual mandibular bone depressions

Axial CT scan using bone and soft tissue windows

Three-dimensional CT image

Lingual Salivary Gland

Depression
Differential diagnosis
Odontogenic cysts
Epicenter of odontogenic lesions are located above
the inferior alveolar canal

Lingual Salivary Gland

Depression
Management
Destruction of the well-defined cortex of the
defect may indicate the presence of a neoplasm

Focal Osteoporotic Bone

Marrow
Definition
Radiolucent defects within the cancellous
portion of the jaws
Etiology is unknown
Bone marrow hyperplasia
Persistent embryologic marrow remnants
Sites of abnormal healing

Variation of normal anatomy

Focal Osteoporotic Bone

Marrow
Clinical features
Asymptomatic
Middle-aged women

Focal Osteoporotic Bone

Marrow
Radiographic features
Location

Mandibular molar-premolar region

Maxillary tuberosity
Mandibular retromolar area
Edentulous ridge
Near apex of teeth

Internal aspect: radiolucent because of fewer

trabeculae
Periphery: ill-defined and blending OR
corticated
Surrounding bone is normal

Focal osteoporotic bone marrow defect

Focal osteoporotic bone marrow defect in the

furcation region

Focal Osteoporotic Bone

Marrow
Differential diagnosis
Small simple bone cyst
Inflammatory lesion
Furcation region or at apex of teeth
Very early inflammatory lesions have an intact
lamina dura similar to normal bone

Focal Osteoporotic Bone

Marrow
Management
No treatment
Doubt: longitudinal study at 3-month intervals
Marrow space should not increase in size

The End
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