|Year : 2015 | Volume
| Issue : 4 | Page : 603-607
Hemifacial microsomia: A rare case report
Sneha H Choudhary, Lata M Kale, Sunil S Mishra, Anand N Swami
Department of Oral Medicine and Radiology, Chhatrapati Shahu Maharaj Shikshan Sanstha (CSMSS) Dental College and Hospital, Aurangabad, Maharashtra, India
|Date of Submission||23-Apr-2015|
|Date of Acceptance||18-May-2016|
|Date of Web Publication||19-Aug-2016|
Dr. Sneha H Choudhary
B/9, Annapurna Girls Hostel, Near Chhatrapati Shahu Maharaj Shikshan Sanstha (CSMSS) Dental College and Hospital, Kanchanwadi, Aurangabad - 431 002, Maharashtra
Source of Support: None, Conflict of Interest: None
| Abstract|| |
Hemifacial microsomia (HFM) is a congenital facial deformity involving the structures derived from first and second pharyngeal arches like temporomandibular joint, mandibular ramus and body, muscles of mastication, ear and sometimes facial nerve. HFM is the second most common developmental craniofacial anomaly after cleft lip and palate, which usually occurs unilaterally, but also may occur bilaterally. In the present article, we have reported a case of HFM in an 8-year-old boy with unilateral facial hypoplasia, deformed ear and partial conductive hearing loss on the right side.
Keywords: Condylar hypoplasia, hemifacial microsomia, microtia, unilateral hypoplasia
|How to cite this article:|
Choudhary SH, Kale LM, Mishra SS, Swami AN. Hemifacial microsomia: A rare case report. J Indian Acad Oral Med Radiol 2015;27:603-7
|How to cite this URL:|
Choudhary SH, Kale LM, Mishra SS, Swami AN. Hemifacial microsomia: A rare case report. J Indian Acad Oral Med Radiol [serial online] 2015 [cited 2021 Jan 18];27:603-7. Available from: https://www.jiaomr.in/text.asp?2015/27/4/603/188772
| Introduction|| |
Hemifacial microsomia (HFM) is a craniofacial disorder in which there is unilateral hard and soft tissue deficiency, characterized by a wide spectrum of anomalies, including underdevelopment of the temporomandibular joint (TMJ), mandibular body and ramus, masticatory muscles and ear; hypoplastic maxillary, temporal and zygomatic bones; and conductive hearing loss due to external and middle ear deformities. HFM occurs with the reported incidence between 1 in 3000 and 1 in 5600 births, being the second most common developmental craniofacial anomaly after cleft lip and palate.  Goldenhar syndrome is a variant of HFM with vertebral anomalies and epibulbar dermoids. 
| Case Report|| |
An 8-year-old male patient reported to the Department of Oral Medicine and Radiology with the complaint of decayed mandibular right first deciduous molar tooth. Patient gave no history of associated toothache, fever, or swelling in the same region or any other part of the oral cavity. Extraoral examination revealed an evident facial asymmetry and a malformed right ear, following which detailed prenatal, natal, and postnatal histories were recorded. Patient's mother gave no history of forceps delivery. Patient's natal history as mentioned in the discharge form revealed malformed right ear and nail bed cyanosis since birth for which he was referred to a pediatrician. Patient had undergone 2-D echocardiogram and Doppler study at the age of 6 months which was normal. Audiogram done at the age of 7 years revealed left side moderate and right side moderate to severe conductive hearing loss for which he was advised an ENT consultation. Patient also gave a history of pain and burning sensation in the right ear 4 months back for which he had visited an ENT surgeon who prescribed him antibiotics. Family history revealed normal siblings without any abnormalities. On general examination, patient was moderately built and well nourished, cooperative, well oriented to time, place and person, with normal gait and all the vitals were within normal range. Detailed extraoral examination revealed an asymmetrical face due to mandibular hypoplasia on the right side, deviated chin to the right side, fullness of face on the left side, zygomatic bone more pronounced on the left side, and deformed right ear (microtia) which was placed slightly at a lower level as compared to the contralateral ear, with complete absence of external acoustic meatus. The eye, ala of the nose, and corner of mouth were placed at a higher level on the right side with deviation of mandible to the right side on mouth opening [Figure 1] and [Figure 2]. On palpation, the right TMJ movements were not palpable on the right side; right masseter and temporalis muscles were deficient; and thin and prominent sternocleidomastoid muscle was present [Figure 3]. Intraoral examination revealed high-arched palate [Figure 4], mixed dentition with deep occlusal caries of 84, erupting 11, 21, over-retained 71, 81, missing 31, 41 and non-palpable anterior border of ramus on the right side. On the basis of history and clinical examination, a provisional diagnosis of HFM was given. The differential diagnosis considered were congenital unilateral TMJ ankylosis on the right side, Treacher Collins syndrome More Details, Pierre Robin syndrome, Parry-Romberg syndrome More Details, and hypoplasia of right mandibular condyle. The patient was subjected to radiographic investigations including intraoral periapical radiograph (IOPAR) of 84, panoramic radiograph (OPG), and PA skull [Figure 5] and [Figure 6]. IOPAR showed severe occlusal caries in 84. OPG revealed right side mandibular hypoplasia including short ramal height and width, small condylar head, reduced depth of sigmoid notch, reduced height of body of mandible, and prominent antegonial notch. PA skull showed deficiency of temporal, zygomatic, orbital, maxillary, and mandibular bones, along with reduced height and width of ramus, raised nasal floor, and prominent antegonial notch on the right side. Thus, the final diagnosis of HFM was confirmed. Plastic surgery was proposed for the correction of right ear to restore esthetics followed by orthognathic surgery for maxillary and mandibular hypoplasia, depending upon the extent of deformity once growth is completed, i.e., after the age of 18 years, along with orthodontic treatment if required.
|Figure 1: (a) Front profile showing mandibular hypoplasia and deviation of chin to the right side, raised nasal floor and corner of mouth on the right side. (b) Raised level of orbital floor on the right side|
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|Figure 5: OPG showing short ramal height and width, small condylar head, reduced depth of sigmoid notch, reduced height of body of mandible, and prominent antegonial notch on the right side|
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|Figure 6: PA skull showing unilateral hypoplasia of temporal, zygomatic, orbital, maxillary, and mandibular bones and raised nasal floor on the right side|
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| Discussion|| |
German physician Carl Ferdinand Von Arlt was the first to describe the condition craniofacial microsomia in 1881. The term HFM was first used by Gorlin et al. for patients with unilateral microtia, macrostomia, and malformed mandibular ramus, body, and condyle. Goldenhar syndrome was described as a variant of HFM, in which vertebral anomalies and epibulbar dermoids were present. Converse et al. proposed the term craniofacial microsomia, when cranial deformities were included.  Other synonyms for HFM used in literature include first arch syndrome, otomandibular dysostosis (Francois and Haustrate, 1954), first and second branchial arch syndrome (Stark and Saunders, 1962; Grabb, 1965), oculoauriculovertebral sequence (Gorlin et al., 1963), Goldenhar syndrome (Goldenhar, 1952; Gorlin et al., 1976), lateral facial dysplasia (Ross, 1975), and craniofacial microsomia (Converse et al., 1979). 
Although there are numerous theories given in literature for the development of HFM based on embryologic, clinical, and laboratory studies, yet the exact etiology is unknown. However, it is said that pathogenically, the etiology of HFM is heterogeneous. Various laboratory studies suggest that certain factors are responsible for the clinical presentation of HFM, which may be due to early loss of neural crest cells.  Neural crest cells migrate to the developing arches and are responsible for the correct formation of these structures. Damage to, or disruption of, these cells results in the facial abnormalities of HFM and related syndromes. , The defective genes, teratogens and vascular anomalies are singly or collectively responsible for the disruption of normal development, which leads to anomalies seen in these patients. 
HFM most frequently involves the first and second pharyngeal arch structures like maxilla, mandible, facial and trigeminal nerves, masticatory muscles, external and middle ear, and the overlying soft tissue.  In our case, there was unilateral maxillary and mandibular hypoplasia, deformed ear with complete absence of external acoustic meatus on the right side and additionally, presence of thin and prominent ipsilateral sternocleidomastoid muscle. Intraorally, tooth size discrepancies, tooth agenesis, supernumerary teeth, malocclusion, enamel and dentin malformations, delayed tooth development and eruption may be present.  In this case, over-retained 71 and 81 were present causing delayed eruption of 31 and 41, along with presence of high-arched palate and non-palpable anterior border of ramus and coronoid process on the right side. Females appear to be less frequently affected than males (2:3) and the right side is affected more than the left side.  It is usually unilateral (70%) and always asymmetrical, if present bilaterally. In our case also, HFM was present in a male patient and the right side was affected. Although the term "hemifacial" refers to one half of the face, this condition may occur bilaterally in 31% of cases, in which one side is more severely affected than the other. However, this condition may be a part of some other syndromes like Goldenhar syndrome in 48% of cases. 
Due to various clinical manifestations of the HFM disorder, many classifications have been proposed to categorize these patients. The two most frequently used classifications are the skeletal-auricular-soft tissue (SAT) and the orbital asymmetry-mandibular hypoplasia-ear malformation-nerve dysfunction-soft tissue (OMENS) deficiency classifications. Among these, OMENS classification is the more comprehensive and, is therefore, one of the most commonly used systems. ,, In our patient, facial nerve dysfunction was absent.
Radiographically, extraoral radiographs and OPG reveal aplasia or hypoplasia of the mandibular body, ramus and condyle and hypoplastic maxillary and zygomatic bones. In the case reported here, the radiographs revealed unilateral hypoplasia of temporal, zygomatic, and orbital bones, mandibular body and ramus, condylar head, sigmoid notch, and prominent antegonial notch. Based on the clinical and radiographic findings, a final diagnosis of HFM was made. Other advanced imaging modalities like computed tomography (CT), cone beam computed tomography (CBCT), and magnetic resonance imaging (MRI) are required when correction of the facial asymmetry along with orthodontic treatment and orthognathic surgery is planned as well as when facial nerve dysfunction or sensorineural hearing losses are present. MRI can be used for studying the TMJ, especially the articular disc and condyle relationship, in cases where surgical procedures like mandibular distraction osteogenesis are planned, and also to study the facial nerve and facial muscle hypoplasia in HFM patients. 
The differential diagnosis of HFM includes Pierre Robin syndrome, Treacher Collins syndrome, and Parry-Romberg syndrome. However, Pierre Robin syndrome always consists of micrognathia, glossoptosis, and cleft palate, which were not seen in the present case. Features of Treacher Collins syndrome which may mimic HFM include hypoplasia of facial bones, especially malar and mandibular bones, malformation of external, middle, and internal ear, macrostomia, and high palatal arch, whereas the other features like antemongoloid palpebral fissures, deficient eyelashes, blind fistula between the angles of ear and mouth with facial cleft and skeletal deformities and characteristic "fishlike or birdlike" appearance of face were not seen in the present case. Parry-Romberg syndrome (facial hemiatrophy) is characterized by progressive wasting of subcutaneous fat, sometimes accompanied by atrophy of skin, cartilage, bone, muscle, whereas in HFM, there is underdevelopment of one side of the face primarily affecting the ear (aural), mouth (oral), and jaw (mandible). 
The management of HFM is a multidisciplinary approach, with the goal to improve facial symmetry and functioning. Since HFM is a congenital disorder, the growth and development need to be considered while treatment planning; hence, treatment can be broken into various age segments. Vital functions like breathing, eating, and sleeping should be assessed immediately. In severe cases, temporary tracheostomy may be required. Following this, attention must be given to ensure proper feeding so that the infant can thrive; in some cases, a temporary feeding tube may be required. At the age of 2-4 years, mildly affected children require no treatment. In cases where the mandible is severely underdeveloped, it should be either reconstructed using a rib bone graft or should be lengthened by distraction osteogenesis. After lengthening of the mandible is achieved, the gap between the maxillary and mandibular teeth on that side requires orthodontic treatment to bring the maxillary and mandibular teeth in contact so that the lip line and teeth are aligned. At the age of 6-8 years, external ear reconstruction can be done in mildly affected patients. But in patients with severe facial asymmetry, reconstruction of the jaw and cheekbone contouring are required, thus delaying the ear reconstruction. At the age of 8-10 years, soft tissue and its blood supply from another part of the body (i.e., back or abdomen) are transferred to the cheek to create fullness. Hence, this phase is crucial in the treatment program in terms of esthetics. During teenage years, orthognathic surgery should be performed on those patients whose mild condition did not require treatment in early childhood. Mandibular growth that occurs in adolescence in severely affected patients may require further surgery. Therefore, these patients require both pre- and post-surgical orthodontic treatment due to surgical movement of the jaws. 
| Conclusion|| |
Being a rare developmental anomaly which is characterized by deficiency of skeletal and soft tissue components of the maxillofacial region on one side of the face, early diagnosis plays a key role in treatment planning for HFM. Early intervention is also essential for proper functioning and esthetics of the orofacial structures, resulting in better prognosis and improved quality of life of patients.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
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Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]