Hemifacial microsomia (HFM)

Definition
● HFM is a congenital malformation resulting from defects in the first and second branchial
arches .
● Five major areas are affected by hemifacial microsomia:
1. External ear
2. Mandible (lower jaw)
3. Orbit (eye bones)
4. Facial nerve (the nerve controlling the muscles of facial expression)
5. Facial soft tissues (muscle, subcutaneous tissues, fat, and skin)
Epidemiology
● HFM is the second most frequent craniofacial birth defect after cleft
lip and palate.
● The Birth prevalence is 1/5600 .
● Males are more frequently affected than females(3:2).
● The right malformation is more frequent than the left one.
Etiology
The exact etiology of HFM has not yet been determined, but appears to
involve a disruption in the development of the first and second
pharyngeal arches during the first 6 weeks of gestation.
 vascular injury (hemorrhage, thrombosis) of the stapedial artery
 anomalous proliferation and migration of embryonic neural crest
cells
 External environmental factors (e.g., thalidomide, triazene, retinoic
acid, and vasoactive medications, smoking)
 Maternal intrinsic factors (e.g., maternal diabetes)
 Genetic factors may lead to HFM.
Pathogenesis
● Pathogenic models for the development of HFM:
 Vascular abnormality and embryonic hemorrhage around the stapedial artery lead to
hematoma and an ischemic environment, which resulted in the underdevelopment of
structures & HFM.
 Interference with Meckel’s cartilage development during morphogenesis from
teratogens, hemorrhage, and genetic defects can result in unilateral mandibular
hypoplasia.
 Direct effects to the abnormal migration, proliferation, and differentiation NCC can
occur through genetic defects(OTX2 deletion), teratogens, and environmental factors.
Clinical Features
● Facial asymmetry (unilateral)
● Facial paralysis Microtia
● Chin deviation toward the affected side
● Ear underdevelopment: microtia, anotia, atresia, Skin tag
● Deafness as a result of ear abnormalities
● Hypoplasia of the bone: mandible, zygoma, maxilla, temporal bone.
● Muscle underdevelopment: mastication, palatal, tongue.
● Anomalies of the teeth (hypodontia), and delay in the development of the tooth Anotia
● Difficulties with feeding and speech.
● In severe cases breathing may also be affected
● Small and underdeveloped eye with normal vision on affected side
● Often the forehead and cheek are flattened on the affected side
 Pruzansky classification of HFM
● Type I:
Generalized mild hypoplastic state involving muscles of mastication, glenoid fossa, mandibular condyle ,ramus.
TMJ functions with normal rotation
● Type IIA:
Hypoplastic cone-shaped condylar head that is located medial and anterior to a hypoplastic glenoid fossa.
TMJ function is often satisfactory
● Type IIB:
Moderate to severe hypoplasia of the glenoid fossa, condyle, and mandibular ramus.
Non-articulating TMJ
● Type III:
Complete absence of the mandibular ramus and condyle.
No TMJ
 OMENS-plus System
Orbit
O0: Normal orbital size and position
O1: Abnormal orbital size
O2: Abnormal orbital position
O3: Abnormal orbital size and position
Mandible
Mo:  The mandible is normal.
MI:    The mandible and glenoid fossa are small with a short ramus.
M2:   The mandibular ramus is short and abnormally shaped.
2a:     Glenoid fossa is in anatomically acceptable position with reference to opposite TMJ.
2b:     TMJ is inferiorly, medially, and anteriorly displaced, with severely underdeveloped condyle.
M3:    The ramus, glenoid fossa, and TMJ are completely absent.
Ear
Eo:  Normal ear
E1:   Mild hypoplasia and cupping with all structures present
E2:  Absence of external auditory canal with variable hypoplasia of the concha
E3:  Malpositioned lobule with absent auricle; lobular remnant usually inferiorly and anteriorly
displaced.
Facial Nerve
N0:   No facial nerve involvement
N1:    Upper facial nerve involvement (temporal and zygomatic branches)
N2:    Lower facial nerve involvement (buccal, mandibular, and cervical branches)
N3:    All branches of the facial nerve affected, with other involved nerves also analyzed, such as
the trigeminal N5 (sensory) and hypoglossal N12, and the remaining cranial nerves signified by
the appropriate number in superscript
 Soft Tissue
S0:   No obvious soft tissue or muscle deficiency
S1:     Minimal subcutaneous/muscle deficiency
S2:    Moderate, between the two extremes, Stand S3
S3:    Severe soft tissue deficiency due to subcutaneous and muscular hypoplasia
Diagnosis
● The minimal diagnostic criteria for HFM requires either
1)Ipsilateral mandible & auricle defects or
2) Asymmetric mandible or auricle defects with the involvement of 2 or
more indirectly associated anomalies or a positive familial history of
HFM
● Cephalogram
● Photography
● Computerized tomography (CT)
● MRI
 Case Report:
● A child who was born with hemifacial
microsomia of the right side. There is a Type
III glenoid fossa–mandibular malformation.
The only treatment intervention was the
excision of displaced redundant auricular
tissue in the right cheek region.
Treatment

● Early surgical treatment in growing children combined with orthodontic therapy, is based
upon the hypothesis that HFM is a progressive deformity and that early treatment can
positively affect future facial growth.
● Delayed surgical intervention in the adolescent period (age 15 in boys and 13 to 15 in
girls) is based upon the hypothesis that HFM is not progressivein nature.
 Distraction osteogenesis (Mandible)
 Combined Le Fort I and bilateral sagittal split osteotomy and genioplasty
 Hearing aids for hearing loss
 Reconstruction of ear or placement of a prosthesis: Rib Graft Harvest Procedure
 Reconstruction eye socket & osteotomies for significant orbital malformation
 Type I,II doesn’t need surgery but type III needs surgical reconstruction.
Mandibular distraction: The bony generate is seen in the distraction gap.
Rib Graft Harvest Procedure