DEVELOPMENTAL

DISTURBANCES OF
THE FACE AND JAWS
(part 1)
BY : NASUHA MAARIF
Cleft lip and Cleft Palate
Crouzon Syndrome
Hemifacial Microsomia
Treacher Collins Syndrome
Cleidocranial Dysplasia
Hemifacial Hyperplasia
Segmental Odontomaxillary Dysplasia
Lingual Mandibular Bone Depression
Focal Osteoporotic Bone Marrow
Cleft lip and Palate
Cleft lip
Cleft palate
Cleft lip and palate
(unilateral or bilateral)
Failure of fusion of developmental processes during fetal
development
- 1 : 1000
- Strong genetic predisposition.
- Can be associated with syndromes ;
Van der Woude
Pierre Robin
22q.11 deletion syndrome ( velocardiofacial syn. )
- other factors
eg : nutritional deficiencies, smoking, anticonvulsants , stress ,
defects of vascular supply

Clinical features
Cleft lip with or without cleft palate :
Failure of fusion of the medial nasal process with maxillary process
> males
Severity : range from unilateral clefting to bilateral complete clefting through
lip,alveolus, hard palate, soft palate .

Cleft palate :
Failure of fusion of the lateral palatal shelves
> female
Minimal manifestation : submucosal clefting ( bifid uvula , notched in posterior
border of hard palate )
Cleft lip , cleft palate severity forms

Problems
Dental anomalies like missing, hypoplastic, supernumerary teeth and enamel
hypoplasia
Speech
Swallowing
Middle ear infections








Radiographic features
A : Bilateral clefts of the
maxilla in the lateral incisor
regions and defects of the
dentition


B : Lateral cephalometric
view showing
underdevelopment of maxilla
A
B
Coronal view : discontinuity in the
nasal floor
Sagittal view : maxillary hypoplasia and
deficient palatal anatomy
CT scan of an 11 year old male,
A : nasal deviation to affected
side
B : cleft through alveolar process
and nasal cavity
C : cleft is corticated and
completely through palate
A B
C
Management
Cleft palate team :

Plastic and reconstructive surgeon
Oral and maxillofacial surgeon
ENT surgeon
Orthodontist
Dentist
Speech therapist
Psychologist
Nutritionist

3 months : close cleft lip
1 year old : surgical closure of palate

Bone grafting, dental prosthesis or implants , orthodontic
treatment
Crouzon Syndrome
- Also called craniofacial dysostosis / syndromic
craniosynostosis / premature craniosynostosis

- Autosomal dominant. Mutation in fibroblast growth
factor receptor 2 on chr. 10.

- 1:25,000 births

- Characterize by:
Premature closure of cranial sutures with usually the
coronal suture closes first before the others.
Premature fusion of synchondroses of the cranial
base

Clinical features
Brachycephaly
Hypertelorism
Orbital proptosis
Blind ?
Prominent nose
Narrow and retruded maxilla
Short vertical and A-P dimension
Hypoplastic and retruded ANS
High palatal vault
Crowding of teeth

Radiographic features
General features
Sclerosis of sutures and overlapping edges
Diminished facial growth due to premature fusion
of the cranial base. Clinical forms may precede
radiographic characteristics.
Prominent cranial markings or beaten metal
appearance in growing children

Features of the Jaws
Maxillary hypoplasia leads to class 3 malocclusion
and orbital proptosis
Mandible appears prognathic


Radiographic features
2 year old boy : orbital proptosis,
hypertelorism, midfacial hypoplasia.

Lateral skull view shows short A-P
dimension,digital impressions, and hypoplastic
maxilla
Radiographic features
Radiographic features
Management
- Surgical and orthodontic treatment from infancy
through adolescence by CRANIOFACIAL TEAM

- Objectives : to allow normal brain growth, prevention
of increased Intra-Cranial Pressure, protect eyes by
providing bony support and improve facial esthetics
and occlusal function

- Normal intelligence and life span with early dx
Hemifacial Microsomia
- Also called hemifacial hypoplasia /craniofacial microsomia / lateral
facial dysplasia / Goldenhar syndrome or oculoauriculovertebral
dysplasia

- 1:56,000 births, 2nd most common after cleft lip and palate

- Autosomal dominant

- Abnormal development of first and second brachial arches resulted
in reduced development of half of the face. If bilateral ;
craniofacial microsomia

- More in Males 3:2 , more in right side 3:2

- Involvement of other vertebral abnormalities and epibulbar
dermoids is considered as Goldenhar syndrome.
( Oculo- Auricular Vertebral syndrome )


Clinical features
Aplasia or hypoplasia of the external ear
Missing ear canal
Small skull
Delayed dental eruption , hypodontia
Malocclusion on the affected side
Occlusal plane will be canted up to the affected side
Radiographic features
- Reduction in bone sizes on the affected side.
Clearest in mandible.
Mandible : lack of development of
condyle,coronoid process,ramus, and body
Dental : reduction in number and size
Muscles : small muscles of mastication and facial
expression
Ear : hypoplasia or atresia of auditory canal and
ossicles of middle ear.
Facial nerve : abnormal course
Reduced size and malformation of
the left ear and left side of
mandible
Note the complete absence of TMJ and
coronoid process as well as auditory
canal atresia
Lack of development
of ramus, coronoid
process, and condyle
Muscles of mastication in 7-year-old
girl with left hemifacial microsomia.
Axial CT scan shows normal right
masseter muscle (straight arrow) and
medial pterygoid muscle (arrowhead)
compared with hypoplastic left
medial pterygoid muscle (wavy
arrow) and essentially absent
masseter muscle
Diiferential diagnosis..
Codylar hypoplasia caused by fracture at birth
or Boerings arthrosis
They dont produce the ear changes

Exposure to radiation therapy during child

Progressive hemifacial atrophy in Parry
Romberg syndrome
They become more severe over time and not present
at birth. Plus, ears are normal

Management
Mandibular : Corrected by orthognathic
surgery or distraction osteogenesis.

Ear : Plastic surgery or maxillofacial
prosthetics

Hearing loss : Hearing aid or cochlear
implants


Treacher Collins Syndrome
Most common type of mandibulofacial
dysostosis

Autosomal dominant , 1 : 50,000 births

Mutation in TCOF1 gene on chr. 5
Clinical features
- Depends on severity

Underdevelopment or absence of zygomatic bone
Small narrow face
Downward inclination of the palpebral fissures
Underdevelopment of mandible, retruded chin
Downturned , wide mouth
Malformation of external ears
Absence of auditory canal
Partial or complete deafness
30% have clefts
Angle Class 2 anterior open-bite

Radiographic features
Striking findings :
Missing zygomatic bones and hypoplasia of the lateral
aspects of the orbits

Small or absence of the auditory canal, mastoid air
cells, and articular eminence
Small maxilla and especially mandible. Accentuation of
antegonial notch and a steep mandibular angle ( body
bends inf post direction )
Especially short ramus
Condyles positioned posteriorly and inferiorly
Underdeveloped maxillary sinus or absent.
Bilateral auditory canal atresia, aplasia of the zygomatic arch , and hypoplasia of
the mandibular ramus with characteristic curved shape of the mandibular body
and pronounced antegonial notching
Other disorders that may result in severe hypoplasia of
entire mandible ..
Condylar agenesis
Hallermann-Streiff syndrome
Nager syndrome
Pierre Robin sequence
Differential Diagnosis..
Management
CRANIOFACIAL team

Surgical intervention including bilateral distraction
osteogenesis of the mandible

Plastic surgery and maxillofacial prosthetics for the
ears

Hearing aids and cochlear implants for hering loss

Orthodontics and orthognathic surgery