Hemifacial microsomia2.1

1. Intro.: Assymmetry vs. Symmetry.
2. Definition
3. Incidence
4. Etiology & Genetics
5. Diagnosis:
1. Clinical Manifestations
2. Nomenclature
3. Radiographic Findings
6. Treatment:
1. Surgical I: Orthognathic Surgery (Osteotom & Graft)
2. Surgical II: Distraction Osteogenesis.
3. Orthodontic.

Patient presenting with left-sided hemimandibular hyperplasia. (b) Note
the right-sided chin point deviation which is clearly visible from below

An OPG radiograph of the same patient demonstrating:
• increased vertical mandibular growth on the left side
• increased alveolar height
• a leftsided lateral open bite
• displacement of the inferior dental canal on the left.

 Symmetry is defined as correspondence in size,
shape and relative position of parts on opposite
sides of a dividing line or median plane.
 Asymmetry is described as a lack or absence of
symmetry.
 When applying this to the human face, it
illustrates an imbalance or disproportionality
between the right and left sides.
 A degree of asymmetry is normal and acceptable
in the average face.
 It may be caused by a range of factors that
affect the underlying skeletal structure or soft
tissue drape.

 Perfectly bilateral face and body symmetry is
largely a theoretical concept that rarely
exists in living organisms.
 Right-left differences occur everywhere in
nature where two bilateral congruent parts
present in an entity.
 Humans frequently experience functional as
well as morphological asymmetries, e.g.
right and left handedness. Some of these
asymmetries are embryonically or genetically
determined and encoded in the central
nervous system.

 Preferential laterality for some anomalies is
striking, such as cleft lip, which occurs more
commonly on the left side.
 Left-right tooth crown size asymmetry, evident
by measurement but not by visual inspection, is
also a normal state in the general population.
 Slight facial asymmetry can be found in normal
individuals, even in those with aesthetically
attractive faces. This minor facial asymmetry is
common, usually indiscernible and does not
require any treatment.
 The point at which ‘normal’ asymmetry becomes
‘abnormal’ cannot be easily defined and is often
determined by the clinician’s sense of balance
and the patient’s sense of imbalance.

 However, the importance of early diagnosis
and the detection of progressive causative
conditions is essential for the management of
facial asymmetry.

 Hemifacial microsomia is a congenital
malformation in which there is deficiency
in the amount of hard and soft tissues on
one side of the face.
 It is primarily a syndrome of first and
second branchial arches involving
underdevelopment of the
temporomandibular joint, mandibular
ramus, masticatory muscles, ears and
occasionally defects in facial nerve and
muscles.

 Maxilla
 Mandible
 External and middle ear
 Facial and trigeminal nerves
 Muscles of mastication
 And overlying soft tissue.

 Hemifacial microsomia (HFM) is:
 The most frequently encountered form of
isolated facial asymmetry.
 The second most common congenital facial
anomaly after cleft lip/palate.
 Incidence between 1 in 3000 and 1 in 5600
births.
 Males appear to be more frequently affected
than females. (3 : 2)
 The right side is affected more often than the
left side.
 Although HFM refers to one half of the face, the
condition is bilateral in 31% of the cases, with
one side being more affected than the other.
 In 48% of cases, the condition is part of a larger
syndrome such as Goldenhar syndrome.

 HFM was first described by German physician Carl
Ferdinand Von Arlt in 1881.
1. Gorlin et al. used the term HFM to describe patients
with unilateral microtia, macrostomia and malformation
of mandibular ramus and condyle,
2. whereas Goldenhar syndrome was described as a
variant, with vertebral anomalies and epibulbar
dermoids. (‫العين‬ ‫حبة‬ ‫تغطى‬ ‫لحمية‬)
3. The name, craniofacial microsomia, was proposed by
Converse et al. when cranial deformities were included.
4. Other synonyms include:
1. first arch syndrome,
2. first and second branchial arch syndrome,
3. otomandibular dysostosis,
4. oculo-auriculovertebral dysplasia and
5. lateral facial dysplasia.

A Parent’s Guide to HFM
A Publication of Children’s
craniofacial association

 Hemifacial Microsomia is a condition that
simply comes “out of the blue” (‫فجأة‬)
 It doesn’t run in families and is not a result
of disease process. Simply stated, it is a birth
defect. (congenital)
 Some cases of HFM are severe; therefore the
degree of deformity is considerable. Other
cases are mild with a wide spectrum of
manifestation.
 A doctor or medical team makes the clinical
diagnosis. No DNA has been Identified in the
condition.

 Cause is unknown
 Stapedial Vessel Rapture affecting 1st & 2nd
brachial arches development
 More recently (2002), a report of a
transgenic mutation of a locus termed Hfm
(B1 to B3 on chromosome 10) in a mouse
model seems to provide insight into the
pathogenesis of HFM

 OMIM® and Online Mendelian Inheritance in
Man ® are registered trademarks of the Johns
Hopkins University.
Copyright® 1966-2012 Johns Hopkins University.
 OMIM is intended for use primarily by physicians
and other professionals concerned with genetic
disorders, by genetics researchers, and by
advanced students in science and medicine.
While the OMIM database is open to the public,
users seeking information about a personal
medical or genetic condition are urged to consult
with a qualified physician for diagnosis and for
answers to personal questions.

 Hemifacial microsomia is a common birth
defect involving first and second branchial
arch derivatives.
 The phenotype is highly variable. In addition
to craniofacial anomalies, there may be
cardiac, vertebral, and central nervous
system defects.
 Most cases are sporadic (Where There Are No
Affected Relatives), but there are rare
familial cases that exhibit autosomal
dominant inheritance.

‫مدى‬ ‫عن‬ ‫وتساؤلى‬ ‫العيادة‬ ‫حول‬ ‫مناقشاتى‬ ‫أحد‬ ‫فى‬
‫أقسام‬ ‫بباقى‬ ‫مقارنة‬ ‫األسنان‬ ‫وراثة‬ ‫قسم‬ ‫انضباط‬
‫التخصصات‬ ‫من‬ ‫الوراثة‬ ‫تخصص‬ ‫أن‬ ،‫الرد‬ ‫كان‬ ،‫الشعبة‬
‫للباحثي‬ ‫تتيح‬ ‫التى‬ ‫للحاالت‬ ‫منجم‬ ‫وعيادتها‬ ،‫النادرة‬‫فيها‬ ‫ن‬
‫على‬ ‫التعرف‬ ‫خالل‬ ‫من‬ ‫وأبحاثا‬ ‫علمية‬ ‫أوراقا‬ ‫يكتبوا‬ ‫أن‬
‫األشع‬ ‫فى‬ ‫المتخصص‬ ‫أن‬ ‫حتى‬ ،‫ووصفها‬ ‫الحاالت‬ ‫بعض‬‫ة‬
‫يجد‬ ‫لن‬ ‫فهو‬ ،‫آخر‬ ‫لقسم‬ ‫االنتقال‬ ‫رفض‬ ‫لديهم‬ ‫مثلى‬
‫الوراثة‬ ‫عيادة‬ ‫حاالت‬ ‫توازى‬ ‫حاالت‬.
‫ممن‬ ‫لمثلى‬ ‫يحققها‬ ‫أن‬ ‫هللا‬ ‫من‬ ‫أرجو‬ ‫التى‬ ‫واألمنية‬
‫الشعبة‬ ‫هذه‬ ‫مستقبل‬ ‫فى‬ ‫يفكرون‬:‫عيادة‬ ‫تصبح‬ ‫أن‬
‫من‬ ‫كثير‬ ‫يقدمها‬ ‫ال‬ ‫التى‬ ‫وخدماتها‬ ‫بتميزها‬ ‫األسنان‬
‫بحاال‬ ‫تأتى‬ ‫طيبة‬ ‫سمعة‬ ‫ذات‬ ‫الخاصة‬ ‫األسنان‬ ‫عيادات‬‫ت‬
‫ط‬ ‫عمل‬ ‫أى‬ ‫وهدف‬ ‫فغاية‬ ،‫بحثيا‬ ‫عليها‬ ‫العمل‬ ‫نستطيع‬‫بى‬
،‫للعالج‬ ‫جيدة‬ ‫طرق‬ ‫عن‬ ‫البحث‬ ‫هو‬ ‫األسنان‬ ‫طب‬ ‫مثل‬
‫بنسبة‬ ‫ولو‬ ،‫مرضى‬ ‫دون‬ ‫من‬ ‫ذلك‬ ‫يكون‬ ‫فكيف‬50%‫من‬
‫األبحاث‬.

1- Extraoral
2- Classifications
3- Intraoral

 Ranging from the mildest form that
included facial asymmetry and ear
deformity to the most severe and unusual
form with facial nerve paralysis and spine
deformity.

 May be associated with underdevelopment in
the skull, or the orbit on the affected side.
 There may be a small non-seeing eye or the
eye may be entirely absent. (A range of eye
problems: from Normal to absent)
 Eyelids: dermoids or notches.
 The Cheek: is flat because the bone beneath
hasn’t grown properly.
 The Face: is vertically short in this side.

 It is involved in a similar way.
 Underdeveloped Mandible or a portion of the
mandible can be missing (ramus or condyle)
 Condylar Hypoplasia or Aplasia.


 External Ear:
 May be Normal.
 May be Underdevelped.
 May be Absent.
 There May be skin tags in front of the ear or
in a line between the ear and the corner of
the mouth.
 Hearing is defective.

1. OMENS Classification:
1. O=Orbital Distortion
2. M=Mandibular Hypoplasia
3. E=Ear Anomaly
4. N=Nerve Involvement
5. S=Soft Tissue Deficiency
2. SAT Classification:
1. S=Skeletal
2. A=Auricular
3. T=Soft Tissue
3. Pruzansky & Kaban’s Classifications:
Grade I, IIA, IIB, III Mandible
Most Useful in Clinical practice

 Pruzansky, 1969 described a system that presented a simple workable mandibular
classification based on three different types of mandibular deformities.
 Grade I mandible: a small mandible with a normal TMJ. It is a normally shaped miniature
mandible with a normal glenoid fossa and well-developed muscles of mastication.
 Grade II mandible: has a functioning TMJ with a misshapen condyle and a ramus that is
short and abnormally shaped. The muscles of mastication are somewhat deficient. I
 grade III mandible: the ramus, and glenoid fossa are absent and there is no TMJ – in
essence, agenesis of the ramus. There is also significant soft tissue deformities. The
mandible may end abruptly in the molar region.
 In the Pruzansky system, the distortion of the adjacent facial skeleton is directly related
to the degree of mandibular deformity.
 In Kaban’s modification of Pruzansky’s grading system, type I and type III are essentially
unchanged, but the type II deformity is separated into
 IIA and IIB.
 Kaban type IIA: the TMJ, ramus and glenoid fossa are hypoplastic, malformed and
malpositioned, but the deformed joint is adequately positioned for symmetric opening of
the mandible.
 In the type IIB: the joint is malpositioned inferiorly and medially and will not function as a
TMJ for adequate symmetric opening of the mandible.
 In the type IIA, the degree of hypoplasia of the mandibular musculature is closer to
normal than in the type IIB.
 In the type III deformity of the neuromusculature is very deficient .
 In the United States the Kaban’s modification of Pruzansky’s system is the system most
widely used in publications.

 A variant of this disease. In addition to what
seen above:
 The Forehead: is flattened.
 The Eye: may be pulled downward(Infra ___)

 Very similar with addition findings:
 Benign Growths on the eyes (Epibulbar
Dermoids).
 May also have neck problems: fusions
between the bones of the neck (vertebrae),
causes the most common problems.
 Goldenhar’s Syndrome is called also:
Occulauricular dysplasia (OAV)

 Intraoral manifestations include:
Malocclusion
 Tooth discrepancies
 Agenesis of teeth
 Supernumerary teeth
 Enamel and dentin malformations
 Delay in tooth development.

1- Radiography
2- Computed Tomography
3- Photography
4- 3D Photography

 (a) Patient presenting with
right-sided hemifacial
microsomia. Lack of
mandibular growth on the
right side has resulted in chin
displacement to the affected
side.
 (b) A panoramic radiograph
illustrating the lack of
mandibular growth on the
right side.

 Axial Computerized Tomography showing
hypoplastic left ramus and coronoid process of
mandible

 Computerized Tomography showing
hypoplastic left pterygoid plates

I. 1- Surgical: Orthognatic Surg.
II. 2-Surgical: DO
III. 3- Orthodontic

 Due to unilateral deficiency of the mandible
and lower face, patients with HFM have
specific dental needs that require
restorative, orthodontic and surgical
correction.
 The treatment always requires an
interdisciplinary approach including at least
maxillofacial surgery and orthodontics.

 This disease is a very complex 3Dimentional
Deformity. The correction is difficult and can
rarely be achieved in one stage.
1. If the skull & the skull base are
underdeveloped & assymmetrical, then
Intracranial surgery may be necessary to
enlarge the skull, by putting the skull bones in
the correct position. (A Neurosurgeon helps
with this procedure)
 Usually at this time it is possible to enlarge the
orbit & to reconstruct the zygomatic arch, or
cheek bones.
 The operation can be done with either bone
from the skull or elsewhere (Bone graft)
 Timing: at an early age (when the patient
presents for treatment)

 Before school Jaw Lengthening can be done:
 Maxillary Osteotomy and grafting or Distraction
Osteogenesis
 Mandible may be done in the same time, to
adjust Occlusion.
 Absence of Condyle is displaced by a rib graft
which has cartilage on its upper surface (to form
a joint)
 Soft tissue Deficiency can be reconstructed using
Skin and fat grafts.Muscle grafts are used in
some cases (Free Flap, containing Blood vessels
will be attached to Neck vessels)

1. To Revise Scars.
2. To Shift the Soft Tissue around to obtain a
better contour or shape.
3. Bone Grafting some needed areas.(from
skull or hip)
4. Eye Socket Reconstruction and Artificial Eye
Prosthesis.

 Treatment of problematic Eruption &
Occlusion
 Treatment of Canting.

1. Long-term Follow Up.
2. Tendency for poor growth on the affected
side.
3. Missing Eye.(Occularist)
4. Occlusion Problems /Canting.(Orthodontist)
5. Hearing Defects. Abnormalities of the
internal ear, and ear canal can be
completely absent.
This leads tovarying degrees of deafness
(normal hearing is possible in most
cases).(Neuro-otologist)

1. Osseointegration using small metal studs into the
bone in the ear region. A framework is is then
attaced to the studs & a silicone ear (a replica of
the normal ear)
[Very Secure- Relistic-With no feeling- can be detached &
lost-color may fade- need to be changed with growth
of the child]
2. To make an ear from Rib Cartilage (A staged
Procedure):
1. Cartilage framework is carved according to the pattern
designed from the other ear.
2. Placed under the skin on th side of the head
3. After a length of time, the ear is elevated and another
skin graft is placed behind it.
[takes several operations wh. Is cosmetically accepted- may
not be accurat – may vary in color- will have no normal
sensation, however, it is more convenient than a
prosthetic ear]

 Children Often look different, but most of
these children are of normal intelligence and
function completely normally
 Learning Difficulties: Language problem due
to deafness.
 It is important for parents to realize that
rehabillitation will take a long time, because
of complexity of the disease, and because of
growth changes between to sides.

 This needs a multidesciplinary treatment with
many spechialists to reach better results & fewer
complications. (Centres with craniofacial team
which are up to date with new research in their
specialities & well experienced about these
cases are better to treat these children)
 Separate Physicians may have unsatisfactory
results, which may need more 2 or 3 operations
to correct what has been done.
 Meeting other families with the same problem in
these centres offer an opportrunity of advice and
support.

 In designing a course of treatment, the
dental occlusion must be considered in
conjunction with the underlying skeletal
condition.
 Orthodontic therapy begins with removable
orthodontic appliance (functional
 appliance) and when secondary dentition
appears it is possible to continue the
treatment using fixed orthodontic appliance
to restore proper occlusal plane.

 Ramus interpositional bone grafting or end-
on bone grafting. In a few cases, ramus
lengthening may be completed by a sagittal
split.

 Egil Harvold and his colleagues developed a method
by which changes in form and function are co-
ordinated by using a functional appliance resulting in
neuromuscular adaptation.
 After the bone grafting is completed, as the second
of six phases of treatment, a specially designed
registration bite-block further facilitates
neuromuscular adaptation by controlling mandibular
movements (function), but in addition it protects the
bone graft from excessive forces thereby aiding in
osteogenesis (third phase).
 While this form of treatment is not the only one
possible, it is the only one that has been tested in
the laboratory, proven in patient care, and stood the
test of time. (Ousterhout & Vargervik, Aust N Z, 1987)

 The surgical intervention is needed to
lengthen the mandibular ramus and corpus
which will reduce facial asymmetry.
 two approaches:
 early surgical intervention(during growth)
 late surgical intervention (after the active
growth period)
 In the early approach, either the
conventional surgical procedure or the
distraction technique are possible.

 During the conventional surgical procedure,
the deficient ramus of the mandible is partly
replaced by an autologous costo-chondral
bone graft.
 A costo-chondral bone graft is preferred as it
still has a growth potential that makes it
comparable to the non-affected side.
 A costo-chondral graft provides length to the
ramus,
 as well as a joint; it also acts as a growth
centre.

 In some centres the use of the distraction
technique is the early procedure of choice.
 The late procedure consists of either a
classical osteotomy (i.e. bimax surgery with
canting the maxilla in combination with
advancement of the mandible and
lengthening the ramus)
 or a bimaxillary distraction osteogenesis

 Postero-anterior cephalometric radiographs of
one patient pre-distraction (Tpre), at the end of
distraction, just before removal of the pins (Td),
and 5 years post-distraction (T5). The Occlusal
plane is marked by a white dotted line, the
Antegonial plane by a grey continuous line.
(Maria Costanza Meazzini et al., 2005)

Panoramic radiographs of one patient pre-distraction (Tpre), at end of
distraction, prior to removal of the pins (Td) and at the longest follow-up
record, 5 years post-distraction (T5).

 Frontal photograph of a patient pre-distraction
(Tpre), 1 year post-distraction (T1) and 5 years
post-distraction (T5). Note the improvement in
the facial contour and lip commissure level after
distraction, but the substantial ‘return’ of the
phenotype 5 years post-distraction.

 Anatomical landmarks and planes on frontal cephalometric
tracing. Latero-orbitale (LOr), Infraorbital point (InfOr), Nasal
floor point (NF), Occlusal plane point (Oc), Antegonial point
(Ag). Horizontal reference line (Lor–Lor), Infraorbital plane
(InfOr–InfOr), Nasal Floor (NF–NF), Occlusal Plane (Oc–Oc),
Antegonial Plane (Ag–Ag).

 Successful treatment of hemifacial
microsomia calls for close coordination
among the patients’ dental care providers,
dental specialists and medical care
providers.
 From maintenance therapy to intricate
orthodontic, pediatric, restorative,
prosthetic and surgical procedures, all
aspects of clinical care must be maximized
to provide these patients with optimal
treatment.

1. Manu Dhillon et al., Hemifacial
microsomia: a clinicoradiological report
of three cases. Journal of Oral Science,
Vol. 52, No. 2, 319-324, 2010.
2. A guide to understanding hemifacial
microsomia. A publication of children’s
craniofacial Association, Dallas, TX, 2005.
3. Maria Mielnik-Błaszczak & Katarzyna
Olszewska. Hemifacial Microsomia –
Review of the Literature. Dent. Med.
Probl. 2011, 48, 1, 80–85.

Hemifacial microsomia2.1

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