Radiographic Features of Developmental Anomalies in the Face and Jaws

1. Developmental Anomalies of the face and Jaws
Dr. Hadi Munib
Oral and Maxillofacial Surgery Resident

2. Outline
• Introduction
• Common Developmental Anomalies
• References

3. Introduction
• Developmental disturbances affect the normal growth and
differentiation of craniofacial structures.
• They are usually first discovered in infancy or childhood.
• Some are caused by known and recently discovered genetic mutations,
whereas others result from environmental factors.
• These conditions result in a variety of abnormalities of the face and jaws
including abnormalities of structure, shape, organization, and function
of hard and soft tissues.

5. Cleft Lip and Palate
• A failure of fusion of the developmental processes of the face during fetal
development.
• Cleft lip/ palate (CL/P) and cleft palate (CP) are the most common developmental
craniofacial anomalies.
• In Caucasian populations; the incidence of cleft lip is 1 : 800 to 1 : 1000 live
births.
• The incidence of cleft palate is approximately 1 : 1000.
• Can range in severity from a unilateral cleft lip to bilateral complete clefting
through the lip, alveolus, and hard and soft palate in the most severe cases.
• CP develops from a failure of fusion of the lateral palatal shelves.
• The minimal manifestation of cleft palate is a submucous cleft; the palate
appears to be intact except for notching of the uvula (bifid uvula) or notching in
the posterior border of the hard palate detectable by palpation

6. Cleft Lip and Palate
• The most severe presentation is complete clefting of the hard and soft
palate.
• The precise etiology of orofacial clefting is not completely understood.
• However, most cases of CL/P and CP are considered to be multifactorial
with a strong genetic component.
• CL/P and CP can each be associated with other abnormalities, as part of
a genetic malformation syndrome such as 22q.11 deletion syndrome

7. Cleft Lip and Palate
• Clinical Features
• CL/P is most common in males and CP is more common in females.
• Both conditions are more common in Asians and Hispanics than blacks or
Caucasians.
• As CL/P increases in severity, the cleft will include the alveolar process and
palate.
• Bilateral cleft lip is more frequently associated with CP.
• Frequency of dental anomalies in the region of the cleft, including missing,
hypoplastic, and supernumerary teeth and enamel hypoplasia.
• Dental anomalies are also more prevalent in the mandible in these patients.
• In both CL/P and CP the palatal defects interfere with speech and swallowing.
• Affected individuals with palatal clefts are also at increased risk for recurrent
middle ear infections because of the abnormal anatomy and function of the
Eustachian tube.

8. Cleft Lip and Palate
• The typical appearance is a well-defined vertical radiolucent defect in
the alveolar bone, including numerous associated dental anomalies
• These may include the absence of the maxillary lateral incisor and the
presence of supernumerary teeth in this region.
• Often the involved teeth are malformed and poorly positioned
• There may be a mild delay in the development of maxillary and
mandibular teeth and an increased incidence of hypodontia in both
arches.
• The osseous defect may extend to include the floor of the nasal cavity.

11. Crouzon Syndrome
• Craniofacial dysostosis, syndromic craniosynostosis, and premature
craniosynostosis
• An autosomal dominant skeletal dysplasia characterized by variable
expressivity and almost complete penetrance.
• It is one of many diseases characterized by premature craniosynostosis
(closure of cranial sutures).
• Its incidence is estimated at 1 : 25,000 births.
• Of these cases, 33% to 56% may arise as a consequence of spontaneous
mutations, with the remaining being familial.
• CS is caused by a mutation in fibroblast growth factor receptor II - Chromo 10
• The subsequent lack of bone growth perpendicular to the synchondrosis and
cranial coronal sutures produces the characteristic cranial shape and facial
features.

12. Crouzon Syndrome
• Brachycephaly; short skull front to back
• Hypertelorism; increased distance between eyes
• Orbital proptosis; protruding eyes.
• In familial cases, the minimal criteria for diagnosis are hypertelorism and orbital
proptosis.
• Patients may become blind as a result of early suture closure and increased
intracranial pressure.
• The nose often appears prominent and pointed because the maxilla is narrow,
and short in a vertical and an anteroposterior dimension.
• The anterior nasal spine is hypoplastic and retruded, failing to provide adequate
support to the soft tissue of the nose.
• The palatal vault is high and the maxillary arch narrow and retruded, resulting in
crowding of the dentition.

13. Crouzon Syndrome
• General Radiographic Features;
• The earliest radiographic signs of cranial suture synostosis are sclerosis
and overlapping edges.
• Sutures that normally should look radiolucent on the skull film will not
be detectable or will show sclerotic changes.
• Premature fusion of the cranial base leads to diminished facial growth.
• These markings may be seen as multiple radiolucencies appearing as
depressions (so-called digital impressions) of the inner surface of the
cranial vault, which results in a beaten metal appearance

14. Crouzon Syndrome
• Radiographic Features of the Jaws; The lack of growth in an anteroposterior
direction at the cranial base results in maxillary hypoplasia, creating a Class III
malocclusion in some patients.
• The mandible is typically smaller than normal but appears prognathic in
relation to the severely hypoplastic maxilla.
• Differential Diagnosis
• Premature craniosynostosis, either isolated or part of a genetic syndrome, is a
fairly common disorder.
• The incidence of CS is reported to range from 1 : 2100 to 1 : 2500 births.
• Other syndromic forms of craniosynostosis and nonsyndromic coronal
craniosynostosis.

18. Hemifacial Microsomia
• Hemifacial hypoplasia, craniofacial Microsomia, lateral facial dysplasia,
Goldenhar syndrome, and oculoauriculovertebral dysplasia
• The second most common developmental craniofacial anomaly after
cleft lip and palate
• Affecting approximately 1 : 56,000 live births.
• Typically displays reduced growth and development of half of the face as
a result abnormal development of the first and second branchial arches.
• This malformation sequence is usually unilateral but occasionally may
involve both sides.
• Craniofacial Microsomia.

19. Hemifacial Microsomia
• When the whole side of the face is involved, the mandible, maxilla, zygoma, external
and middle ear, hyoid bone, parotid gland, vertebrae, fifth and seventh cranial nerves,
musculature, and other soft tissues are diminished in size and sometimes fail to
develop.
• Delayed dental eruption and hypodontia on the affected side have also been
reported.
• Autosomal dominant inheritance have been reported.
• There is a male predominance of 3 : 2 and a right side predominance of 3 : 2.
• Goldenhar Syndrome; Cases with vertebral abnormalities and epibulbar dermoids -
oculoauriculovertebral dysplasia.
• Aplasia or hypoplasia of the external ear (microtia) is common, and the ear canal is
often missing.
• In about 90% of cases, there is malocclusion on the affected side.
• The midsagittal plane of the patient’s face is curved toward the affected side. The
occlusal plane will often be canted up to the affected side.

20. Hemifacial Microsomia
• Radiographic Features
• Reduction in the size of the bones on the affected side -clearest in the
mandible
• The body is reduced in size, and a portion of the distal aspect may be missing
• The dentition on the affected side may show a reduction in the number or size
of the teeth.
• CT examination shows a reduction in the size of the muscles of mastication
and muscles of facial expression and hypoplasia or atresia of the auditory
canal and ossicles of the middle ear.
• The course of the facial nerve is often shown to be abnormal on CT
examination of the temporal bone.

21. Hemifacial Microsomia
• Differential Diagnosis
• Condylar Hypoplasia; caused by a fracture at birth or by juvenile
arthrosis (Boering ’ s arthrosis), DOES NOT produce the ear changes.
• Radiation therapy
• In progressive hemifacial atrophy (Parry-Romberg syndrome); the
changes will become more severe over time but are generally not
present at birth, and the ears are normal.
• Management

23. Treacher Collins Syndrome -Mandibulofacial Dysostosis
• An autosomal dominant disorder of craniofacial development.
• An incidence of 1 : 50,000.
• Approximately half of cases arise as the result of sporadic mutation; the rest are
familial - TCOF1 gene on chromosome 5.
• The most common clinical findings are relative underdevelopment or absence of
the zygomatic bones, resulting in a small narrow face; a downward inclination of
the palpebral fissures; underdevelopment of the mandible, resulting in a
downturned, wide mouth; malformation of the external ears; absence of the
external auditory canal; and occasional facial clefts.
• The palate develops with a high arch or cleft in 30% of cases.
• Hypoplasia of the mandible and a steep mandibular angle results in an Angle Class
II anterior open-bite malocclusion.
• Hypoplasia or atresia of the external ear, auditory canal, and ossicles of the
middle ear may result in partial or complete deafness.

24. Treacher Collins Syndrome
• Radiographic Features
• A striking finding is the hypoplastic or missing zygomatic bones and hypoplasia of the
lateral aspects of the orbits.
• The auditory canal, mastoid air cells, and articular eminence often are smaller than
normal or are absent.
• The maxilla and especially the mandible are hypoplastic, showing accentuation of the
antegonial notch and a steep mandibular angle, which gives the impression that the
body of the mandible is bending in an inferior and posterior direction
• The ramus is especially short.
• The condyles are positioned posteriorly and inferiorly.
• The maxillary sinuses may be underdeveloped or absent.
• Differential Diagnosis
• Dondylar agenesis, Hallermann-Streiff syndrome, Nager syndrome, and Pierre Robin
sequence.

25. Treacher Collins Syndrome
• Management
• Multidisciplinary
• Surgical Intervention

28. Cleidocranial Dysplasia/ Dysostosis
• Autosomal dominant malformation syndrome affecting bones and teeth.
• Both sexes equally.
• Its prevalence is estimated at 1 : 1,000,000.
• It can be inherited or arise as a result of sporadic mutation; Runx2 gene on
chromosome 6.
• This gene codes for anoasteoblastspecific transcription factor.
• Shorter stature than unaffected relatives, but not short enough for this to be
considered a form of dwarfism.
• The face appears small in contrast to the cranium as a result of hypoplasia of
the maxilla and a brachycephalic skull
• The presence of frontal and parietal bossing.
• The paranasal sinuses may be underdeveloped.

29. Cleidocranial Dysplasia
• There is delayed closure of the cranial sutures and the fontanels may
remain patent years beyond the normal time of closure.
• The bridge of the nose may be broad and depressed, with Hypertelorism
• The complete absence (aplasia) or reduced size (hypoplasia) of the
clavicles allows excessive mobility of the shoulder girdle.
• Prolonged retention of the primary dentition and delayed eruption of the
permanent dentition.
• A study of teeth from patients with CCD revealed a paucity or a complete
absence of cellular cementum on both erupted and unerupted teeth.
• Often unerupted supernumerary teeth are present, and considerable
crowding and disorganization of the developing permanent dentition may
occur

30. Cleidocranial Dysplasia
• General Radiographic Features; Brachycephaly, delayed or failed closure
of the fontanels, open skull sutures, and multiple wormian bones (small,
irregular bones in the sutures of the skull that are formed by secondary
centers of ossification in the suture lines)
• In the most severe cases, very little formation of the parietal and frontal
bones may occur.
• Typically the clavicles are underdeveloped
• Approximately 10% of cases, they are completely absent.
• Other bones also may be affected, including the long bones, vertebral
column, pelvis, and bones of the hands and feet.

31. Cleidocranial Dysplasia
• Radiographic Features of the Jaws;
• The maxilla and paranasal sinuses characteristically are underdeveloped, resulting in
maxillary micrognathia.
• The mandible is usually normal size.
• A patent (open) mandibular symphysis has been reported in 3% of adults and 64% of
children.
• Alveolar bone overlying unerupted teeth as being denser than usual, with a coarse
trabecular pattern in the mandible.
• Decreased resorption and multiple reversal lines.
• It may account for the delayed eruption in teeth not mechanically obstructed by
supernumerary and other unerupted teeth.
• Radiographic Features Associated with the Teeth; The unerupted teeth develop most
commonly in the anterior maxilla and premolar regions of the jaws.
• Many resemble premolars and these unerupted teeth may develop Dentigerous cysts.

32. Cleidocranial Dysplasia
• Differential Diagnosis; family history, excessive mobility of the
shoulders, clinical examination of the skull, and pathognomonic
radiographic findings of prolonged retention of the primary teeth with
multiple unerupted supernumerary teeth.
• Gardner’s syndrome and pycnodysostosis
• Management
• In CCD dental care should include the removal of primary and
supernumerary teeth.

40. Hemifacial Hyperplasia/ Hemifacial Hypertrophy
• A condition in which half of the face, including the maxilla alone or with
the mandible, or in concert with other parts of the body, grows to
unusual proportions.
• The cause is unknown.
• Some cases are associated with genetic diseases such as Beckwith-
Weidemann syndrome.
• Begins at birth and usually continues throughout the growing years.
• Beckwith-Weidemann syndrome; an overgrowth disorder characterized
by macrosomia, macroglossia, organomegaly and developmental
abnormalities.

41. Hemifacial Hyperplasia
• When it occurs with other abnormalities, including mental deficiency,
skin abnormalities, compensatory scoliosis, genitourinary tract
anomalies, and various neoplasms, including Wilms’ tumor of the
kidney, adrenocortical tumor, and hepatoblastoma
• Females and males are affected with approximately equal frequency.
• The dentition of affected individuals may show unilateral enlargement,
accelerated development, and premature loss of primary teeth.
• The tongue and alveolar bone enlarge on the involved side.
• The presence of enlarged teeth together with rapid eruption of the
dentition suggests hemifacial hyperplasia.

42. Hemifacial Hyperplasia
• Radiographic examination reveals;
• Enlargement of the bones, including the mandible, maxilla, zygoma, and
frontal and temporal bones.
• Reports of involving only one side of the maxilla or one side of the mandible.
• Differential Diagnosis
• Hemifacial hypoplasia of the opposite side, arteriovenous aneurysms,
hemangioma, and congenital lymphedema.
• Severe condylar hyperplasia that may involve half of the mandible should be
considered
• Cases limited to one side of the maxilla must be differentiated from
Monostotic fibrous dysplasia and segmental odontomaxillary dysplasia.
• Management; Referral

45. Segmental Odontomaxillary Dysplasia
• Hemimaxillofacial dysplasia
• A developmental abnormality of unknown etiology that affects the posterior
alveolar process of one side of one maxilla, including the teeth and attached
gingiva.
• The abnormality is always unilateral and results in enlargement of the alveolar
process, gingiva, and teeth.
• Frequently teeth are missing (most commonly the premolars), and some of
the teeth that remain are unerupted.
• Unilateral hypertrichosis and mild facial enlargement have been reported in a
few cases.
• Most cases are detected in childhood because a parent notices the lack of
tooth eruption or mild facial asymmetry or the dentist notices missing
premolars radiographically.

46. Segmental Odontomaxillary Dysplasia
• The density of the maxillary alveolar process is increased, with a greater
number of thick trabeculae that appear to be aligned in a vertical
orientation, having an appearance similar to that of some intraosseous
hemangiomas.
• The roots of the deciduous teeth are larger than on the unaffected side
and usually are splayed in shape.
• The crowns of the deciduous teeth and sometimes the permanent teeth
are enlarged.
• Enlargement of pulp chambers and irregular resorption of the roots of
deciduous teeth also may be seen.
• The maxillary sinus does not pneumatize the alveolar process.

47. Segmental Odontomaxillary Dysplasia
• Differential Diagnosis
• Segmental hemifacial hyperplasia
• Monostotic fibrous dysplasia
• Regional odontodysplasia.
• Hemifacial hyperplasia is not associated with coarse vertically oriented
trabeculae in the bone
• Monostotic fibrous dysplasia is not typically associated with missing teeth
and will continue to show disproportionate growth of the affected side
• Regional odontodysplasia typically is associated with ghost teeth and is not
associated with expansion and alteration in trabecular pattern in the alveolar
bone.

49. Lingual Salivary Gland Depression
• Lingual mandibular bone depression, developmental salivary gland defect,
Stafne defect, Stafne bone cyst, static bone cavity, and latent bone cyst
• A group of concavities in the lingual surface of the mandible where the
depression is lined with an intact outer cortex.
• They were referred to as pseudocysts because they resemble cysts
radiographically.
• The most common location is within the submandibular gland fossa and often
close to the inferior border of the mandible
• Similar defects have also been described in the anterior region near the apical
region of the bicuspids, associated with the sublingual glands (lingual anterior
variant or LA)
• The medial surface of the ascending ramus, associated with the parotid gland
(medial ramus variant or MR).

50. Lingual Salivary Gland Depression
• Incidence of LP of about 0.10% to 0.48%, it is likely that many go
unreported.
• LA incidence is even less at 0.009%.
• They are asymptomatic and next to impossible to palpate and, generally
discovered only incidentally
• In a recent review of a large number of cases, males predominated
females at 6.1 : 1.
• Peak incidence in the fifth and sixth decades.

51. Lingual Salivary Gland Depression
• Radiographic Features; well-defined round, ovoid, or occasionally,
lobulated radiolucency that ranges in diameter from 1 to 3 cm.
• The LP defect is located below the inferior alveolar nerve canal and
anterior to the angle of mandible, in the region of the antegonial notch
and submandibular gland fossa.
• Rare LA examples are located in the apical region of the mandibular
premolars or cuspids and are related to the sublingual gland fossa,
above the mylohyoid muscle

52. Lingual Salivary Gland Depression
• The margins of the radiolucent defect are well defined by a dense sclerotic
radiopaque margin of variable width, which is usually thicker on the superior
aspect.
• This cortical outline is often less distinct in the LA variant.
• The LP defect may involve the inferior border of the mandible.
• CT images reportedly reveal tissue of fat density within the defect or in some
cases there is continuity of the tissue within the defect with the adjacent
salivary gland.
• Differential Diagnosis; odontogenic lesions such as cysts because the epicenter
of odontogenic lesions is located above the inferior alveolar canal.
• Management

58. Focal Osteoporotic Bone Marrow/ Marrow Space
• Radiologic term indicating the presence of radiolucent defects within the
cancellous portion of the jaws.
• Histologic examination reveals normal areas of hematopoietic or fatty
marrow.
• The etiology is unknown but has been postulated to
1. Bone marrow hyperplasia
2. Persistent embryologic marrow remnants
3. Sites of abnormal healing after extraction, trauma, or local
inflammation.
• This entity is a variation of normal anatomy.

59. Focal Osteoporotic Bone Marrow
• Clinically asymptomatic and are commonly an incidental radiographic finding.
• These marrow spaces are more common in middle-aged women.
• Radiographic Features
• A common site is the mandibular molar-premolar region.
• Other sites include the maxillary tuberosity region, mandibular retromolar
area, edentulous locations, occasionally the furcation region of mandibular
molars, and rarely near the apex of teeth.
• The internal aspect is radiolucent because of the presence of fewer trabeculae
in comparison with the surrounding bone.
• The periphery may be ill defined and blending or may appear to be corticated.
• The immediate surrounding bone is normal without any sign of a bone
reaction

60. Focal Osteoporotic Bone Marrow
• Differential Diagnosis
• A small simple bone cyst may have a similar appearance because there is
usually no bone reaction at the periphery of a simple bone cyst.
• Inflammatory lesion; If the area is normal bone marrow, the lamina dura
should be intact. Very early inflammatory lesions that have not yet
stimulated a visible osteoblastic response may appear similar.
• Management; No treatment is required for the osteoporotic bone
marrow space.
• Prior radiographs of the region should always be obtained if available.
• A longitudinal study with films at 3-month intervals may be prescribed.
• The marrow space should not increase in size.

62. References
• Chapter 30: Developmental Disturbances of the Face and Jaws

63. THANK YOU!