craniifacial anomalies

1. CRANIOFACIAL
ANOMALIES
PRESENTED BY
ANINDITA MALLIK
1st yr PG STUDENT

2. • A craniofacial malformation is an anomaly of
embryonic development - results in a serious
impairment of the normal anatomy of skull, jaws and
adjacent soft tissues.
• Most of the malformations diagnosed at birth fall in
the category “craniofacial”
• Craniofacial anomalies (CFA) are a diverse group of
deformities in the growth of the head and facial
bones

5. Facial syndromes and congenital
defects
Post natal growth disturbances
Fetal alcohol syndrome Trauma – maxilla
- Mandible
Hemifacial microsomia Acromegaly & hemimandibular
hypertrophy
Mandibulofacial dysostosis
Facial clefting syndromes
Achondroplasia
Premature fusion of cranial & facial
sutures – craniosynostosis syndromes :
crouson & aspert
Fetal molding & birth injuries – pierre
robin syndrome
-trauma to mandible

6. • Classification of craniofacial malformation (F Van
der Meulen et al 1983).
• CEREBROCRANIAL DYSPLASIA
• CERERBOFACIAL DYSPLASIA
• CRANIOFACIAL DYSPLASIA
• CRANIOFACIAL DYSPLASIAS WITH OTHER ORIGIN

7.  CEREBROCRANIAL DYSPLASIA
• Anencephaly
• Microcephaly
 CEREBROFACIAL DYSPLASIA
• Rhineencepahlic dysplasia
• Oculo-orbital dysplasia

8.  CRANIOFACIAL DYSPLASIA
a) With clefting
• Latero-nasomaxilary cleft
• Medio-nasomaxillary
• Intermaxillary clefting
• Maxillo-mandibular cleft
b) With dysostosis
• Sphenoidal
• Spheno-frontal
• Frontal
• Fronto-frontal
• Fronto-nasoethmoidal
• Internasal

9. • Nasal
• Premaxillo maxillary and intermaxillo-palatine
• Naso maxillary and maxillary
• Maxillo zygomatic
• Zygomatic
• Zygo-auromandibular
• Temporo-aural
• Temporo-auromandibular
• Mandibular
• Intermandibular

10. c) With synostosis
• Cranio synostosis
– Parieto-occipital
– Interparietal
– Interfrontal
• Craniofacio synostosis
– Spheno-frontopareital
– Fronto-parietal
– Fronto interpareital
Faciosynostosis
•Fronto-malar Vomero
premaxillary (Binder)
•Perimaxillary (posterior)
(clefting)
•Perimaxillary (anterior)
(pseudocrouzon)
•Perimaxillary (total)
(crouzon)

11. d) With dysostosis and synostosis
• Crouzon
• Acro-cephalosyndactaly (Apert)
• Triphyllocephaly (clover leaf skull)
e) With dyschondrosis
• Achondroplasia

12. a) Osseous
• Osteopetrosis
• Cranio tubular
dysplasia
• Fibrous dysplasia
b) Cutaneous
• ectodermal dysplasia
c) Neurocutaneous
d) Neuromuscular
Robin syndrome
Mobius syndrome
e) Muscular
Glossoschizis
f) Vascular
Haemangioma
Haemolymphangioma
Lymphangioma
CRANIOFACIAL DYSPLASIAS WITH
OTHER ORIGIN

13. Anencephaly:
• Due to - absent closure of the neural
tube.
• Characterized by absence of –
- vault of the skull.
- The anterior brain structures - replaced by a spongy vascular
mass called psedocephaly

14. Fetal alcohol syndrome
• caused by consumption of
alcohol by mother during
pregnancy
• characterised by
retardation of mental
development and of
physical growth
particularly of skull and
face of the infant

15. Microcephaly:
• Brain is reduced in size
and enclosed in a small
skull,
cerebellum is normal in
size
• Primary (heredity) or
secondary (rubella or
toxoplasmosis)

16. Rhinencephalic dysplasia:
• characterized by forebrain malformations and agenesis of the
midline structures of the face.

17. • Cyclopia:
• Forebrain fails to divide into cerebral
hemispheres.
• Lateral ventricles are fused.
• 1 optic canal, Eyes are fused into
a simple orbit.
• All the midline structures are absent

18. Cebocephaly:
• Absence of the falx, corpus callosum,
olfactory bulbs and tracts.
• Facial dysmorphism -severe hypotelorism
and hypodevelopment of the midline
structures.
• Nose-rudimentary and flat, encompasses a
unique nostril simplified into a blind pit.

19. Pre-maxillary aplasia or hypoplasia:
Type 1 –
• cerebral anomalies involves semilobar holoprosencephaly;
absence of olfactory bulbs and tracts. The optic foramina lies
in a common bony canal.
• Hypotelorism and wide palatal clefting is observed.
• Nose - flat , columella and philltrum are absent.

20. Type 2 –
• Brain development may be
normal.
• Hypotelorism is less severe,
the nose is flat and palatal
clefting is seen.
• Often associated with
cardiovascular malformations.

21. • True or primary clefts are caused by the persistence of epithelium
between the borders of the facial processes, due to deficient epithelial
cell degeneration. Their existence is therefore restricted to –
– latero-nasomaxillary clefting (naso-ocular clefts)
– medio-nasomaxillary clefting
(cleft lip)
– intermaxillary clefting
(cleft palate)
– maxillo-mandibular clefting
(macrostomia)
CRANIOFACIAL DISPLASIAS WITH
CLEFTING

22. Sites of primary (true) clefts: A latero-nasomaxillary; B
medio-nasomaxillary; C maxillomandibular; D
intermaxillary

23. CLEFT LIPAND PALATE
• They are one of the most common congenital anomalies
occurring in about 1.97 to 1.23 /1000 in Indians and 2/1000 in
mongoloids
• In 2/3rd of the cases cleft palate is on the left than the right side
• CL(P) is seen more in male and CP alone more in females

24. • Cleft lip results from failure of fusion of the
median nasal, lateral nasal and the maxillary
processes on either or both sides.
– Reasons
• Hypoplasia of the facial processes
• Altered facial geometry
• Defective ability of surface epithelia to
participate in the fusion process
• Excessive cell depth in the fusing palatal
seams, mesenchymal deficiency and
post fusion rupture

25. • Thus they can be unilateral or bilateral clefting ;
complete or incomplete , of the lip and/or primary
palate till the incisive foramen

26. • Embryogenesis of the palate - movement of the
initially vertical palatal shelves lateral to the tongue
into a horizontal supralingual position with fusion
beginning anteriorly and later in the soft palate.

27. • Reasons-
– Hypoplasia of the palatal shelves
– Failure of the palatal shelf elevation at the correct
time due to diminished intrinsic force; increased
resistance mainly by the tongue position being
high
– Excessive head width causing failure of normal
sized palatal shelves to meet

28. Dentofacial relationships in unoperated cases
• Unilateral cleft - nasal septum and columella is deviated to the
non cleft side of facial midline whereas incisors deviate
towards the cleft
• In UCLP and BCLP - tendency for the mandible to be retruded
and for the mandibular plane to be steep with a relatively
shorter posterior facial height and a longer anterior facial
height

29. • Mandibular incisors- labially proclined in UCLA while
lingually inclined in CLP
• In BCLP -maxillary intercanine dimension were much smaller
than UCLP and UCLA
• In maxillary arch the non cleft segment has a tendency to
rotate forwards hence increasing the overjet while the cleft
side rotates medially hence edge to edge bite of the canines.
Teeth also tend to roll superiorly hence an openbite on that
side due to infraocclusion

30. Presurgical orthopedics 1 to 4weeks Repositioning palatal
segments can facilitate lip
repair
Lip closure 8 to 12 weeks May be preceded by primary
lip adhesion as an alteration
to presurgical orthopedics
Palatal closure 18 to 24 months Closing only the soft plate
initially is an alternative but
one stage closure of hard and
soft palate possible
Speech therapy 6 to 11 years Articulation errors develop
after a child tries to
compensate for the cleft
Early orthodontics 7 –8years Usually anterior alignment
and maxilla transverse
expansion
Alveolar grafting 6 to 10 years Needed before the permanent
canines erupt; being
determined by stage and
sequence of eruption
Pharyngeal flap surgery 9 to 19 years Occurrence of nasal air
leakage
Orthognathic surgery 17 to 19 years Maxillary advancement and
mandibular setback
Fixed orthodontics 17 to 19 years Replacement of missing
lateral incisors

31. Maxillo-mandibular clefting
• It is not formed between the maxillary and mandibular bone but
between the facial processes with the same names.
• It is essentially a soft tissue defect affecting skin, muscle and
mucosa, is usually called macrostomia. It may be unilateral or
rarely bilateral. Its range of malformations varies from minor
elongation of the oral angle to a wide cleft extending towards the
tragal area.

32. • In the majority of cases it is associated
with preauricular appendages or
fistulae that may be found anywhere
between the angle of the mouth and
the tragus occasionally also with
temporoaural and/or mandibular
abnormalities.

33. CRANIOFACIAL DYSPLASIAS WITH
DYSOSTOSIS
• MEDIAN CLEFT FACE SYNDROME/ fronto-nasal
syndrome/Internasal dysplasia

34. • At one end is bifidity of the nasal tip or dorsum,
sometimes associated with a median cleft lip and with
duplication of the labial frenulum.
• Grooves and folds along the dorsum nasi are also
occasionally observed.

35. • At the other end widely separated nasal halves and
extreme orbital hypertelorism, including other
anomalies caused by frontonasoethmoidal dysplasia

36. • Premaxilla may be retarded in development and bifid,
maxilla may show a keel-shaped deformity, with the
incisors rotated upward in each half of the alveolar
process.
• Sometimes a medial cleft of the palate is also found
and this may extend upwards to the cribriform plate
as an inverted V

37. • NASAL APLASIA –
• complete absence of one nasal half.
The nasal cavity is missing and
pneumatiziation of the maxillary
ethmoidal and frontal sinuses has
failed .
• There is no nasolacrimal duct. The
affected half of the maxilla is
hypoplastic and the palatal vault is
high and acutely arched.

38. • NASAL DUPLICATION-
• ranges from a supernumerary nostril in an otherwise
normal nose to duplication of the upper face
(diprosopia). The supernumerary nostril is usually the
medial one. It may end blindly, be stenotic or open
into a nasal cavity.

39. • In the milder cases there may be one continuous
midline septum, while in the more severe cases
duplication of the anterior part of the septum or full
duplication may be observed

40. MANDIBULOFACIAL DYSOSTOSIS/ Treacher
Collins' syndrome /Zygomatic dysplasia
• Caused by a change in a single
gene & Treacher Collin gene is
located on chromosome 5
• Inherited as an autosomal
dominant gene with complete
penetrance but variable
expressivity.

41. Features -
• Malar & zygomatic hypoplasia
• Anti mongoloid slant of the palpebral
fissures
• Coloboma in the outer third of the lower
eyelid(75%)
• Deficiency of eyelashes in the medial
third of the eyelids

42. • Hair extending down & forward from the temporal
region on to the cheek.
• Unusual tongue shape (25% cases)
• Flattening of the cheeks
• Body of the mandible is frequently hypoplastic and the
chin severely retruded.

43. • Radiographs show antigonial notch in the lower
border of the mandible along with hypoplasia of
coronoid & condylar processes.
• Cleft palate is found in approximately 30% of the
cases.

44. • Posterior maxillary height is
decreased and anterior height
is increased resulting in a steep
anteroinferior cant.
• Open bite is related to
shortening of the mandibular
rami and premature posterior
teeth contact

45. • Deformed external ear, ear tags & pre-auricular pits,
absence of external auditory meatus frequently
accompanied by malformations of the middle ear

46. Miller syndrome / Postaxial acrofacial
dysostosis
• Has resemblance to mandibulofacial dysostosis but
there is postaxial limb deficiency.
• Malar bones are hypoplastic with downslanting
palpebral fissures.
• Eyelids may exhibit coloboma
• Cleft lip and/or cleft palate are common

47. • Pinnae tend to be cup-shaped. The external auditory
canals and middle ears are often malformed.
• Various congenital heart defects have been
documented

48. • Postaxial agenesis of a digit of the hands and feet is
seen
• Abnormal thumbs occur in about 50%. The radius
and ulna tend to be short and, in some cases, there is
radioulnar synostosis

49. Nager syndrome / Preaxial acrofacial dysostosis
• Similar to mandibulofacial dysostosis.
• The zygomatic hypoplasia results in
downslanting palpebral fissures.
• The lower eyelids exhibit colobomas
• reduced numbers of eyelashes

50. • External ear defects and cleft
palate are common
• Velopharyngeal insufficiency
• Micrognathia is usually more
marked
• mild mental retardation

51. • Thumb is hypoplastic or aplastic and the anomalies
are usually asymmetric
• Unilateral radial hypoplasia seen in 50% cases

52. HEMIFACIAL MICROSOMIA / Temporo
auromandibular dysplasia / Goldenhars
syndrome
Facial asymmetry with deviation of the chin towards the
affected side and ear anomalies are the 'hallmarks' of this
entity.

53. • Ear - anotia to an ill-defined mass of tissue that is
displaced anteriorly and inferiorly, to a mildly
dysmorphic ear - 65%. Preauricular tags of skin and
cartilage are extremely common, and maybe unilateral
or bilateral.

54. • Both the horizontal and ascending ramus of the mandible
may have macrostomia.
• Malformations are most severe in the condylar region and
less near the middle sector, with flattening of the gonial
angle and accentuation of the antigonial notch.

55. • Hypoplasia of the maxilla on the affected side is
shown by obliquity of the occlusal plane

56. • A depression and recession of the
inferiolateral angle of the orbit
indicates involvement of the malar
bone.
• Orbital dystopia may be observed
• Temporalis, masseter and lateral
pterygoid may be differentially
hypoplastic.

57. • Aplasia of the levator veli palatini, resulting in
abnormal elevation of the soft palate towards the
unaffected side
• Parotid gland may be absent, producing a
preauricular concavity.

58. • Maxillary, temporal, and malar bones on the involved
side are reduced in size and flattened
• Narrow external auditory canals are found in more mild
cases; atretic canals are seen in more severe cases.

59. • Epibulbar tumors - 35% - solid yellowish or pinkish
white ovoid masses.
• Blepharoptosis or narrowing of the palpebral fissure
occurs on the affected side in about 10%

60. • Unilateral or bilateral cleft
lip and/or cleft palate
occurs in 7-15% of
patients
• Tooth development tends
to be delayed and missing
on the affected side
• 35% have velopharyngeal
insufficiency

61. CRANIOSYNOSTOSIS
– Conditions in which one or more sutures closes too
early causing problems with normal brain & skull
growth
– 1 in 2000 live births
– 2M>F
– Can be inherited as:
• Autosomal recessive
• Autosomal dominant

62. Synostotic posterior plagiocephaly
/ Parieto-occipital
• Premature closure of the lambdoid sutures
• found isolated, associated with synostosis of the
sagittal suture or as part of multiple synostoses.
• It causes hypoplasia and flattening of the occiput,
with slight compensatory development of the
ipsilateral anterior cranial region.

63. Scaphocephaly/ interparietal
• Early fusion of the interparietal
sagittal suture
• Elongated narrow shape of the
skull, resembling the hull of a
ship

64. • From front, the skull is high and narrow
• From side - skull is elongated
• From front to back with posterior occipital protrusion
and excessive bulging of the frontal bones anteriorly.

65. Trigonocephaly / interfrontal
• Premature closure of the frontal
suture. The frontal area becomes
triangular.
• Results in a prominent ridge running
down the forehead
• Extent of skull malformation
depends on how early the synostosis
takes place; this usually occurs
during intra-uterine life.

66. Plagiocephaly/spheno-frontoparietal
• Asymmetric malformation
secondary to fusion of one half of
the coronal suture
• Produces flattening of forehead &
the brow on the affected side with
forehead excessively prominent on
the opposite side
• Eye on the affected side may also
have a different shape

67. Brachycephaly / frontoparietal
• refers to craniofacial dysmorphism secondary to
premature bilateral coronal stenosis
• the skull is shortened in the sagittal plane and
compensatory lateral development occurs in breadth
or in height.

68. Binder's syndrome / Maxillo-nasal dysostosis
• Nasomaxillary deformity which mainly affects the
lower part of the nose and the premaxilla
• It is due to an alteration of the inferior mesenchymal
portion of the medial strut formed by the vomer
pushing the premaxilla forward.

69. • Nasofrontal angle is absent and the nose is
hypoplastic with flattened ala with nostrils being half
moon shaped
• Frontal sinuses are hypoplastic

70. • Philtrum is poorly developed
• Premaxilla is hypoplastic with
shortening of the dental arch
• All patients have relative
mandibular prognathism with
anterior crossbite

71. Crouzon syndrome
• The developmental arrest affects the Maxilla, the
Orbit and the Vault
• It is an autosomal dominant condition.
• Two genes known to be associated are FGFR2 and
FGFR3.

72. • Cranium
– craniosynostosis at birth in which several sutures
are always involved

73. • Eyes –
– Exopthalmos, the cardinal sign is constant
– eyes give the patient a ‘ toad like ’
appearance. This appearance is due to
hypoplasia of the maxilla, of the malar bone
and of the orbital roof, resulting in the
reduction in the size of the orbital cavities
– Divergent strabismus or defective
convergence is frequent
– Hypertelorism may be present

74. • Face –
– Flattened and sometimes concave.
– Parrot beak appearance of nose -
maxillary retrusion.
– Dental malpositioning-
supernumerary or abnormal ‘peg-
shaped’ teeth.
– Palate is high arched, narrow &
pointed
– Nasal root is flat, the dorsum and
the nostrils are wide.

75. • Vision
– Lack of skeletal protection may result in exposure
keratitis or even dislocation of the globe.
• Respiration
– Constriction of airway may result in chronic or
intermittent respiratory problems.

76. • Five clinical forms seen –
– Maxillary Crouzon –
– minor exorbitism is seen with severe maxillary
retrusion

77. – Pseudo-Crouzon –
– it is based on the
combination of moderate
exorbitism and inferior
orbital retrusion.
– prominent forehead and
marked digital impressions
are seen
– Occlusion is normal.

78. – Facial Crouzon-
– Retromaxilla with /without exorbitism in the absence of cranial
abnormalities or with discreet frontal flattening.
– These malformations are due to fusion of the posterior part of the
perimaxillary sutural system.
With Exorbitism Without Exorbitism

79. – Cranial Crouzon –
– a sphenoidal dysostosis with variable facial involvement
– occlusion is mostly normal

80. – Craniofacial Crouzon -
– Disproportion b/w minor degree of facial retrusion &
severity of cranial involvement

81. Apert's syndrome
• Inherited in an autosomal
dominant manner.
• The gene involved is FGFR2
(fibroblast growth factor receptor
2) located on chromosome 10
• Having craniosynostosis - 4-5%
have Apert’s syndrome

82. • In infancy-
• Midline calvarial defect from the
nose to the posterior fontanelle.
• The defect is widely patent during
infancy and only gradually fills in
completely during the third year of
life.
• Bony islands form within the
calvarial defect

83. • Down slanting palpebral fissures,
strabismus, orbital hypertelorism.
• ears may appear low set and Otitis
media is common
• Midface deficiency (maxillary
hypoplasia).
• Class III malocclusion is present,
with anterior open bite and anterior
and posterior crossbite
• Delayed dental eruption

84. • symmetric syndactyly of hands and feet involving 2nd ,
3rd and 4th digits.
• fusion of some bones in the neck and differences in the
arms that can be seen on X-rays.
• Thumb and big toe may be broader than normal and
deviates radially

85. • palate is high arched; constricted, and has a median
furrow. Lateral palatal swellings (Hyaluronic acid) are
present, which increase in size with age.
• Maxillary dental arch is V-shaped with severely crowded
teeth and bulging alveolar ridge

86. • Unique- Growth pattern
– Length and weight at birth tend to be increased
and head circumference is approximately normal.
– in infancy and childhood consists of a gradual
decrease in height

87. Pfeiffer syndrome
• Autosomal dominant transmission
• Main features- craniosynostosis,
broad thumbs & great toes, and
soft tissue syndactyly of the hands
• skull is usually
turribrachycephalic.
• Craniofacial asymmetry may be
present
• Maxillary hypoplasia

88. • Hypertelorism, downslanting palpebral
fissures, ocular proptosis, and
strabismus are common
• palate is highly arched, alveolar ridges
are broad, and teeth are crowded
• thumbs and great toes are broad
• Mild soft tissue syndactyly

89. Saethre-Chotzen syndrome
• Craniosynostosisis a facultative
feature
• Brachycephaly or acrocephaly with
coronal sutural synostosis is seen,
producing plagiocephaly and facial
asymmetry
• Frontal bossing, parietal bossing,
and flattened occiput with late-
closing fontanels are seen

90. • Low-set frontal hairline is
commonly observed.
• Ptosis of eyelids, hypertelorism,
and strabismus are common
• ears may be low set, small,
posteriorly angulated
• nasofrontal angle may be flattened
• Maxillary hypoplasia

91. • Oral anomalies include
narrow or highly arched
palate, cleft palate
• supernumerary teeth, enamel
hypoplasia
• Some degree of
brachydactyly and partial
cutaneous syndactyly is
present

92. Cloverleaf anomaly, Triphyllocephaly
• Characterized by hydrocephalus and a trilobular skull with
synostosis of the lambdoidal and coronal and metopic
sutures, with bulging of the cerebrum through the open
sagittal sutures and a widely patent anterior fontanelle.

93. • Characteristics
– Hydrocephaly
– Retrusion of orbital roof
– Exorbitism
– Maxillary retrusion
– Severe downward displacement of
ears and zygomatic arches

94. – nasal flattening and an arched
palate
– Macrostomia; macroglossia;
oblique facial clefting
– Iris colobomas and blindness
– Obstructed nasolacrimal
ducts
– Absent external auditory
canals

95. CRANIOFACIAL DYSPLASIAS WITH
DYSCHONDROSIS
• Achondrodysplasia
– deficient formation of
enchondral bone
– transmitted as an autosomal
dominant trait.
– Height is usually under 1.4 m.
– Short, thick muscular
extremities.

96. – The skull is voluminous with a
prominent occiput and a bulging
forehead overhanging a small impacted
nose.
– Legs are bowed, hands small, fingers
stubby
– Cranial base is shortened.
– The alterations predominantly affect
the ethmoidal part and the cribriform
plate

97. – middle third of the face is
short.
– lower third- long and
protruding.
– The upper lip is shortened and
labial incompetence is
associated with buccal
respiration.
– Class III malocclusion is seen.

98. Ectodermal dysplasia
• affect series of ectodermal derivatives including the teeth
the sweat glands and the of the adnexa the skin
derivatives(nails, hairs).
• hypohydrosis, hypotrichosis, hypodontia are the main
characteristics
• sex-linked recessive trait - males

99. • Main features
– Thin and/or small nails
– Person cannot perspire and consequently suffers
from hyperpyrexia & inability to endure warm
temp
– the midface is retruded due to deficient alveolar
growth. Jaw and facial development are normal
– forehead is prominent and the nose flattened

100. – the skin is thin and dry with
multiple ridges
– hairs are scarce and
underdeveloped.
– complete or partial absence of
teeth & when present teeth
may be truncated or cone
shaped.
– Palatal arch is frequently high
and a cleft palate may be
present.

101. – Forehead is prominent and
nose flattened
– Xerostomia may be present.
– Hypoplasia of the nasal &
pharyngeal mucous glands
which leads to chronic rhinitis
&/or pharyngitis, sometimes
associated with dysphagia &
hoarseness.

102. Neurofibromatosis
• Characterized by neurofibromas or
other neural tumours and by focal
cutaneous hyperpigmentation (cafe-
aulait spots) caused by aggregation
of melanoblasts in the basal layer of
the epidermis.
• derivatives from the neural crest, are
primarily affected.

103. Skeletal malformations –
– macrocranium & interosseous cysts
and perforating defects
– expansion of the middle cranial fossa
– hypoplasia of the sphenoid resulting
in wide areas of communication
between the cranial cavity and the
orbit
– downward displacement of the
zygoma, maxilla and the mandible on
the affected side.

104. Pierre Robin syndrome
• It’s a combination of problems that
begins with Micrognathia .
• Causing not enough room for the
tongue to lie flat in the mouth, so it rests
at the back of the mouth (Glossoptosis)
• Glossoptosis prevents palate from
closing resulting in Cleft palate

105. • It is a disturbance of muscular maturation of nervous
origin which affects the masticatory muscles, the
tongue and the pharyngeal slings

106. Stickler syndrome
• It is a connective tissue disorder caused by a change
in one of the 3 genes for connective tissue.

107. • Features :
– Cleft palate and a small
lower jaw. Of those with
stickler syndrome , 60%
have pierre robbin
syndrome
– Eyes - near sightedness.
– increased risk of cataracts &
retinal detachment.

108. • Hearing loss of some degree
affects around 80% patients.
• Joints may be enlarged and
hyperextensible.
• About 50% of the affected
people have Mitral Valve
Prolapse (MVP).

109. Mobius syndrome
• involves paralysis of certain
facial nerves (unilateral or
bilateral).
• Mainly the intra-cerebral nuclear
part of the 6th & 7th nerves are
affected.
• face is motionless with a
characteristic nasiolabial grin.

110. • No side to side eye movements,
but they will be able to move
them up & down.
• Blinking action may be difficult
• hypoglossia & microstomia may
be seen
• skeletal involvement include
clubfoot, missing or webbed
fingers

111. Cleidocranial dysplasia
• autosomal dominant
inheritance
• individuals are usually short
• skull is brachycephalic, with
pronounced frontal and
parietal bossing.
• maxilla and zygomas are
hypoplastic.

112. • skull is large and short
• Closure of the anterior fontanel and sagittal and
metopic sutures is delayed
• Secondary centers of ossification appear in the
suture lines, and many Wormian bones are formed

113. • Delayed union at the mandibular symphysisis.
• nose is broad at the base, with the bridge depressed.
• neck appears long, and the shoulders are narrow and
droop markedly

114. • Clavicles are absent unilaterally or bilaterally
• variations in size, origin, and insertion of muscles
related to the clavicles, especially the
sternocleidomastoid, trapezius, deltoid, and pectoralis
major

115. • palate is highly arched.
• Submucous cleft of palate and complete cleft of the
hard and soft palates is seen
• Development of the premaxilla is poor with relative
prognathism

116. • multiple supernumerary teeth
• Multiple crown and root abnormalities, crypt
formation around impacted teeth, ectopic location of
teeth, and lack of tooth eruption

117. Acromegaly
• Cause – anterior pituitary tumor that secrete growth
hormone
• Thickening of the facial skin
• Mandibular overgrowth
• Macroglossia
• Anterior open bite
• Class III malocclusion

118. CFA TEAM
• It is agreed worldwide that management of patients with CFAs
is best provided by a multidisciplinary team of specialists.
– Plastic /craniofacial surgeon
– Neurosurgeon
– Pediatrician
– Orthodontist
– Pedodontist
– Speech & language specialist
– Otolaryngologist
– Audiologist

119. – Opthalmologist
– Genetic councellor
– Nurse team coordinator
– Social worker
– Psychiatrist

120. • The surgeon and the orthodontist plan at the very beginning
for diagnosis and treatment planning .
• A detailed treatment plan should be written, including a
specific definition of what orthodontic teeth movement is to be
done prior to surgery; how the orthodontic appliance will be
used for surgical fixation; and what orthodontic tooth
movement will be required to finish the case following
surgery.

121. • The efficacy of orthodontic and orthopedic treatment in case
of craniofacial anomalies depend on the type of deformity,
taking mainly into consideration the growth potential.

122. Presurgical orthodontic treatment
• The main objective of this stage is to arrange the teeth so that
they will approximately fit when the arches are surgically
moved
• Continuous arch wire technique
• Segmented arch technique

123. • Continuous arch wire technique
– Used for total maxillary surgical procedures.
– progressively the size of the arch wires is increased
to achieve final stability in the post-surgical
occlusion.
– If .018 slot is used, the minimum size of arch wire
for a total maxillary surgical splint is .016x.022
without palatal splinting and .016x.016 if acrylic
or metal palatal splinting

124. • Segmented arch technique-
– used in preparation for a segmented surgical
procedure.
– orthodontic treatment time is shortened because
alignment of each segment is done without being
concerned about the relationship of the segments to
each other.

125. • Disadvantage- when surgical suspension wires are used
inadequate fixation will allow the crowns of the
segments to be buccally torqued, causing posterior
buccal overjet and open bite

126. Post surgical orthodontic treatment
• Involves various final adjustments in the occlusal
relationships and the final tooth alignment.
• This final phase usually lasts form 3 to 4 months

127. Transverse Maxillary Deficiency
• 3 main factors should be considered-
– amount of arch length discrepancy-
• In moderate to minimal space deficiency, RME
will increase arch circumference sufficiently to
permit alignment of the crowded anteriors
without the necessity of extraction of premolars

128. – Arch morphology-
• Cases in which a transverse deficiency exists will
exhibit a narrow, tapering arch form.
• The discrepancy will be most pronounced in the canine
region.
• If nonextraction orthodontic therapy is decided- lateral
maxillary osteotomies and rapid maxillary expansion is
the treatment of choice to achieve proper arch
morphology

129. • Cases which do not exhibit severe constriction in the anterior
region, a two-piece maxillary procedure with a midline
osteotomy and resultant diastema may be done
• consideration to wound healing after creation of an interincisal
space should be done. When excessive the gingiva may detach
and interproximal bone may be exposed with a possibility of
devascularization and osteonecrosis of the underlying bone

130. – vertical dimension-
• In cases exhibiting an anterior open-bite with a severely
accentuated maxillary curve of spee ; orthodontic
treatment by extrusion of incisors and/or intrusion of
posterior teeth may compromise the postsurgical
stability.
• Segmentalized orthodontic therapy with a three-piece or
four-piece maxillary surgical procedure is indicated

131. True Unilateral Transverse Maxillary Deficiency
• should be treated by maxillary segmental surgery with the
osteotomy mesial to the most anterior tooth in palatal
cross-bite.
• Orthodontic management of such patients will depend
upon the necessity of extractions for alignment of
crowded anterior teeth.

132. • In some cases the apparent maxillary deficiency may be due to
the ectopic eruption of one or two posterior teeth in one
quadrant and be treated by orthodontic means

133. Transverse Maxillary Excess
• Seen mostly in cases with skeletal class II
• The aim of presurgical orthodontics in these cases is to
position the malaligned teeth over their bases so that the
maxilla can be surgically positioned into a satisfactory
overbite-overjet relationship

134. • Many technical modifications of the Le Fort I
osteotomy are feasible to facilitate simultaneous
anteroposterior, vertical, or horizontal movements of
the anterior and posterior segments of the maxilla.

135. Hemifacial Microsomia
• Harvold advocates the use of activators to guide
eruption of teeth and prevent midline shift until the
time of surgery.
• This approach may have a stimulator effect on muscle
development and serves to prevent canting of the
occlusal plane.
• conventional orthodontic tooth movement is of little
value

136. • In a cephalometric study by Bachmayer, Ross and
Munro (AJO 1986) on maxillary growth following Le
Fort III osteotomy in children with Crouzon-Apert,
Pfeiffer (CAP) syndromes it was found that the
maxillary growth after surgery is negligible.
• Vertical maxillary growth following surgery is
identical to that in unoperated CAP and normal
children, amounting to 1.3 mm/yr.

137. • Graysun et al ( AJO 1983) in a study on unilateral craniofacial
microsomia
• the lateral ceph analysis of patients with unilateral craniofacial
microsomia confirmed the clinical impression of an increased
gonial angle and decreased ramal height and body length on
the affected side.

138. • The ramal height on the unaffected side was also decreased.
• The mandibular plane angle was greater than normal on both
affected and unaffected sides.
• They conclude that the unaffected side too is characterized by
abnormalities in the skeletal anatomy.

139. • Schudy ( JCO 1986) described the surgical correction of
Crouzon's and Apert's syndromes by Dr. Paul Tessier.
The orthodontic treatment involves no special procedures and is
performed in the usual manner. Good arch forms were
established for the prospect of good future occlusion before
the surgery was performed. After the surgery was done
brackets remained on for a further 24 months to improve the
occlusion

140. Skeletal Mandibular Deficiency.
• 3 types of dentoalveolar problems that require orthodontic
treatment often accompany it –
– Malalignment of the teeth ie: crowding or protrusion. Most
of these are dental compensation for the skeletal deficiency
– crossbite tendency appears as the mandible is advanced.

141. – Deep bite, with an accentuated curve of Spee due either to
elongation of the mandibular incisors or due to vertical
under development of the premolar segment of the arch.

142. Distraction ostegenesis.
• specially effective in cases of unilateral
mandibular deficiency
• involves the deliberate fracturing of the bone side
and holding it in close but not exact
approximation by means of a complex system of
extra oral positioners

143. • Principle- osteogenesis takes place in the intervening space.
• As soon the bone formation is complete the set up is adjusted
so that the bone segments move a bit away from each other.
• The bone segments are held in that place till new bone is
formed and so forth, till the bone achieves the required length.

144. • General principles of treatment-
– Orthodontic intrusion of teeth must be done prior to
surgery.
– Extrusion of teeth can be done following surgery.
– tooth movement in the transverse or crossbite plane of
space can be deferred until after surgery.

145. • Tooth movement that occurs immediately after surgery, while
the patient is in IMF but before bone healing occurs should
also be considered.
• Orthodontic tooth movement takes place to maintain the dental
relationship. The mandibular dentition slips forward on the
mandible (2mm) increasing the prominence of the lower
incisors. The maxillary dentition is retracted, decreasing the
prominence of the maxillary incisors.

146. Orthodontic Procedures To Be Avoided Prior To Surgery For
Mandibular Deficiency.
• use of Class II intermaxillary elastics to reduce overjet-
– produces forward positioning of the lower incisors.
– will cause vertical extrusion of the anterior maxillary
segment, tending to extrude teeth

147. Mandibular excess
• characterized by a prominent lower third of the face.
• orthodontic treatment modalities-
– Chin-cap therapy
– Activator appliances
– Fully banded orthodontic appliances.

148. Chin-cap therapy
– the pressure against the chin would be transmitted
to the growing areas of the mandible and the
growth would be impeded or at least directed more
favorably.

149. • two approaches-
– impede mandibular growth by applying heavy
pressure in the vicinity of the growing condyle of
the mandible. The force is applied upward and
backward, opposite to the vector of downward and
forward mandibular growth.
– redirect the growth of the mandible. It is based on
the principle that when the mandible is rotated
downward it rotates backward.

150. Activator appliances:
• effective in the treatment of class III malocclusion using a
class III activator causing a downward and backward
displacement of the mandible.
• It may be trimmed to allow posterior teeth to erupt so that the
vertical dimension is maintained

151. Fully banded orthodontic appliances
• can only be carried out satisfactorily without surgery only
when the problem is minor, because it is very difficult to
position mandibular teeth so as to camouflage the mandibular
prominence.

152. – Conclusion
• Orthodontic management for patients with craniofacial
anomalies tends to be more complex, takes more time and
clinical resources and should be based on a precise
coordination with multiple dental, surgical and medical
providers to achieve the best long-term esthetic and
functional results.

153. • As the orthodontic management is commonly needed prior
to most surgical procedures associated with craniofacial
anomalies, management protocols should be based on a
precise understanding of the exact nature of the anomalies
as certain mechanics may be provided efficiently, safely
and with acceptable durability, while at the same time,
other techniques might be not effectively applied with
some complications.

154. THANK YOU