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CASE REPORT
Year : 2017  |  Volume : 5  |  Issue : 1  |  Page : 25-29

Hemifacial microsomia – A case report and review


1 Department of Oral Pathology and Microbiology, College of Dental Sciences, Davangere, Karnataka, India
2 Department of Oral Pathology and Microbiology, ACES Maaruti College of Dental Sciences and Research Center, Bangalore, Karnataka, India
3 Department of Oral Pathology and Microbiology, Krishnadevaraya College of Dental Sciences, Bangalore, Karnataka, India
4 Department of Oral Medicine and Radiology, Subbaiah Dental College, Shimoga, Karnataka, India

Date of Web Publication28-Sep-2018

Correspondence Address:
Dr. R Shruthy
Department of Oral Pathology and Microbiology, College of Dental Sciences, Room No. 7, Pavilion Road, Davangere - 577 004, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/njecp.njecp_33_15

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  Abstract 


Hemifacial microsomia (HFM) is a craniofacial disorder characterized by a wide spectrum of anomalies, including conductive hearing loss due to external and middle ear deformities. HFM is a common term used to describe a sporadic complex spectrum of congenital anomalies that primarily involve the skeletal and soft-tissue components derived from the first and second pharyngeal arches. Although there is no universal agreement on the minimum diagnostic criteria, the facial phenotype, which is predominantly characterized by asymmetrical hypoplasia of the facial skeleton, the ear, and facial soft tissues are often distinctive enough to differentiate it from other craniofacial disorders. It is the most common facial congenital disability after cleft lip and palate, with an estimated prevalence of about 1 in 5600 births. We present a case of HFM in 13-year-old female.

Keywords: Branchial arch, facial skeleton, hearing loss, microsomia


How to cite this article:
Shruthy R, Sharada P, Priya N K, Sreelatha H S, Jali PK, Suma M S. Hemifacial microsomia – A case report and review. Niger J Exp Clin Biosci 2017;5:25-9

How to cite this URL:
Shruthy R, Sharada P, Priya N K, Sreelatha H S, Jali PK, Suma M S. Hemifacial microsomia – A case report and review. Niger J Exp Clin Biosci [serial online] 2017 [cited 2018 Dec 16];5:25-9. Available from: http://www.njecbonline.org/text.asp?2017/5/1/25/242444




  Introduction Top


Hemifacial microsomia (HFM) was first described by German physician Carl Ferdinand Von Arlt in 1881.[1] HFM is a complex developmental syndrome with a large host of genetic and teratogenic associations and a wide spectrum of clinical features involving the facial skeleton and other organ systems.[2] Underdeveloped face unilaterally involving jaw bones, overlying soft tissues, and usually (but not always) the ear is involved (microtia).[3]

HFM is a congenital malformation in which there is a deficiency in the amount of hard and soft tissues on one side of the face. It is primarily a syndrome of the first and second branchial arches involving underdevelopment of the temporomandibular joint (TMJ), mandibular ramus, masticatory muscles, ears, and occasionally defects in facial nerve and muscles.[4]

The purpose of the present case report is to critically evaluate the clinical and radiological features of HFM and to add the present case to improve our knowledge and diagnostic skill of this uncommon entity.


  Case Report Top


A 13-year-old female patient reported with a chief complaint of proclined maxillary anterior teeth, deformed right ear, and deficient growth on the right side of the face since birth.

General examination

General examination, the patient was moderately built, well nourished, cooperative, and well oriented to time and place. The gait and posture were normal.

Extraoral examination

The extraoral examination on inspection revealed a facial asymmetry evidenced by a deficient growth of the right side of the face that appeared short as compared to the left side and flattened with hollowing of cheek, the body, and ramus of mandible are short on the right side as compared to the left side of the face along with deviation of mandible to the right side on mouth opening and closing with convex facial profile. The chin and midline were deviated to the right side [Figure 1]. The pinna of right ear was deformed and small in size (with a complete closure of the auditory meatus and folding over of the lower part of the ear lobe) associated with moderate hearing loss assessed through audiometry [Figure 2]. Lips are incompetent and commissural pit seen on the left side[Figure 3]. There were no abnormality seen in eyes, nose, lips, ribs, neck movements, and skin. On inspection asymmetry of the face, reduced vertical and lateral mouth opening. On palpation, deviation of the mandible to the right on opening and closing movements with reduced movement of the TMJ on the right side compared to the left and prominent antegonial notch on the right side was observed.
Figure 1: Frontal view of patient showing reduced growth of the mandible and deviation of the corner of the mouth to the right side

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Figure 2: Deformed pinna of the right ear

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Figure 3: Commissural pit on the left side of the lip

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Intraoral examination

Partial bifid and fissured tongue [Figure 4], high palatal vault [Figure 5], and bilaterally enlarged tonsils [Figure 6] were observed. The father and elder sister had a similar problem suggesting a familial history. The patient was under orthodontic treatment and further lost for the follow-up. The differential diagnosis included Pierre Robin syndrome and Treacher Collin syndrome. The patient was subjected for investigations and panoramic radiographs [Figure 7] were advised. The radiographs revealed deficiency on the right side compared to the left such as small condylar head, short ramal height and width, reduced height of body of mandible, and prominent of antegonial notch [Figure 8].
Figure 4: Partial bifid and fissured tongue

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Figure 5: High palatal vault

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Figure 6: Enlarged tonsils

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Figure 7: Orthopantomogram showing reduced ramal height and small condylar head on the right side

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Figure 8: Lateral cephalograph

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With all these above findings, the patient was diagnosed with HFM on the right side of the face.


  Discussion Top


HFM is a highly variable phenotype with asymmetrical congenital deformity of the head and face caused by the anomalous development of the structures derived from the first and second branchial arches.[1],[5]

HFM is the most frequently encountered form of isolated facial asymmetry and the second most common congenital facial anomaly after cleft lip and palate with a reported incidence between 1:5000 and 1:5600 live births.[1],[3] Males appear to be more frequently affected than females (3:2) and the right side is affected more often than the left side.[6],[7] It is usually unilateral (70%) and always asymmetrical if it exhibits bilaterally.[1] Although “hemifacial” refers to one-half of the face, the condition is bilateral in 31% of cases, with one side being more affected than the other.[7] However in the present case, HFM was seen in a female patient which is inconsistent with the literature, and the right side of the face was affected.

HFM was first described by German physician Carl Ferdinand Von Arlt in 1881. Gorlin et al. used the term HFM to describe patients with unilateral microtia, macrostomia, and malformation of mandibular ramus and condyle. Goldenhar syndrome is described as a variant of HFM with vertebral anomalies and epibulbar dermoids. Involvement of cranial deformities is known as craniofacial macrosomia.[1] HFM is also called as oculoauriculovertebral dysplasia, each term represents the perspectives of different specialists.[2]

The OMENS classification (O – orbital distortion, M – mandibular hypoplasia, E – ear anomaly, N – nerve involvement, and S – soft-tissue deficiency) is the most comprehensive, and therefore, one of the most commonly used systems. It encompasses the skeletal and soft-tissue abnormalities, as well as facial nerve and extracranial problems.[7]

Although various theories have been proposed based on embryologic, clinical, and laboratory studies,[1],[8] yet the exact etiopathogenesis of HMF is not entirely clear, but pathogenically it is heterogeneous.[1] The defective genes, teratogens, and vascular anomalies are singly or collectively responsible for the disruption of normal development.[1] The possible hypothesis is that the stapedial artery (vascular alteration) and expanding hematoma formation in utero is responsible for all the developmental alterations of those structures derived from the first and second branchial arches in the first 6–8 weeks of pregnancy resulting in the malformations of the outer and middle ear, mandible and temporomandibular articulation, masticatory muscles, facial muscles, and other soft tissues on the affected side.[3],[6] In more severe cases, other facial structures such as the orbit, eye, nose, skull, and neck may be involved.[4]

The neural crest cells during the development of the jaw migrate to the first pharyngeal arch from the posterior mesencephalic fold and form the first rhombomeres, which gives rise to the skeletal maxilla-mandibular component. Damage or disruption of these neural crest cells impede the development of adjacent medial or frontal nasal processes result in HFM and related syndromes.[1],[7],[8]

The clinical presentation of HFM generally manifests as one of three principal deformities such as auricular hypoplasia, mandibular hypoplasia, or hypoplasia of the soft tissues.[4] Literature reveals varied clinical presentation in each cases with slight asymmetry to severe underdevelopment of one side of the face with involvement of orbital, internal, and external ear malformation with or without total absence of the ear.[1] There are numerous craniofacial abnormalities present in HFM. The most notable physical manifestation is hypoplasia or aplasia of the mandibular ramus and condyle on the affected side, seen in the present case. Mandibular malformations are less severe near the body and symphysis, this is evidenced in the orthopantomograph [Figure 7] in the present case. The gonial angle is obtuse and the antegonial notch is accentuated. There are numerous dental and occlusal abnormalities that ensue from the mandibular deformity. The maxillary, temporal bones, and with or without unilateral shorter zygomatic arch of the affected side may also be hypoplastic and flattened. Hypoplasia of the maxilla on the affected side is clearly revealed by the obliquity of the occlusal plane.[9] The chin and the facial midline are always deviated to the affected side with one corner of the mouth situated higher than the other, giving rise to an oblique lip line.[1]

The muscles of mastication are also involved, along with hypoplasia or aplasia of the parotid gland has been documented. The soft-tissue deficiency is multidimensional and may result in a marked reduction in the distance between the oral commissure and the rudimentary ear on the affected side [9] which is also noted in the present case.

In intraoral examination, the most commonly affected structures are third molar and second molar, in which agenesis is seen with the presence of supernumerary teeth. There is a presence of enamel malformations, anterior teeth are inclined toward affected side, delay in tooth development, and hypoplastic teeth [1] present case there were no supernumerary teeth, teeth malformations, agenesis and missing, there was labially inclination of anterior teeth, which is inconsistent with the literature.

Microtia and/or auricular tags are present in 100% of cases. Combined conductive and sensorineural hearing loss is present in approximately 50% of cases. Involvement of the auricle occurs in most patients. Meurmann proposed a classification of the external ear deformities as Grade I, distinctly smaller malformed auricle but all components are present, Grade II, only a vertical remnant of cartilage and skin with complete atresia of the external auditory canal, and Grade III, almost complete absence of the auricle except for a small remnant, usually a soft tissue lobule.[9]

In the present case, there was gross facial asymmetry, the right side of the face was underdeveloped with the short zygomatic arch. The right ear was deformed with loss of hearing. The chin and midline were deviated to the right side with the corner of the mouth situated slightly higher on the right side compared to the left side, which was consistent with the literature given.

In HFM, there is a deficiency of masseter, temporalis and pterygoid muscles, and the muscles of facial expression are hypoplastic on the affected side. The degree of underdevelopment of the bone is directly related to the hypoplasia of the muscle to which they are attached.[1]

Majority of cases are sporadic in occurrence. However infrequent families have been reported with multiple affected individuals, both sexes spanning successive generations with a male to male transmission, all suggesting an autosomal dominant mode of inheritance. Affected sibs with normal parents and consanguinity suggesting autosomal recessive inheritance have also been reported. Taysi et al. (1983) considered multifactorial inheritance as the most likely genetic mechanism in the etiology of familial history.[10]

The differential diagnosis of HFM includes Pierre Robin syndrome and  Treacher Collins syndrome More Details. Unlike HFM, Pierre Robin syndrome always associated with cleft palate, micrognathia, and glossoptosis, which is not seen in the present case. Most of the features of Treacher Collins syndrome include hypoplasia of facial bones, especially malar and mandibular bones, malformation of external, middle and internal ear, macrostomia, and high palatal arch which mimic HFM; however, the other features such as antimongoloid palpebral fissures, deficiency of eyelashes, blind fistula between angles of the ear and mouth with facial cleft, and skeletal deformities with characteristic appearance of face is “birdlike or fishlike”[1] which were not seen in the present case.

The advanced imaging modalities such as computed tomography, magnetic resonance imaging are used in diagnosis, and treatment planning of craniofacial abnormalities. The management of HFM is a multidisciplinary approach which includes surgery during growth phase or after the growth phase is over, limited autogenous bone grafting of deficient portions of the craniofacial skeleton, and bilateral mandibular jaw advancement in patients with mild-to-moderate mandibular micrognathia with a combined Le Fort I osteotomy. The genioplasty and microvascular free flaps can be used for augmenting the soft tissue of the affected side for treating persons affected with HFM.[1] In the present case, patient was under orthodontic treatment and further lost for the follow-up.


  Conclusion Top


HFM is a developmental malformation in which there is a deficiency in both skeletal and soft tissues of the maxillofacial region on one side of the face. Hence, early diagnosis and treatment should be done for proper functioning and esthetics of the orofacial structures, which will lead to a better prognosis.

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.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Saddiwal R, Hebbale M, Nisa SU, Sane V. Hemifacial microsomia – A case report and review of literature. Int J Adv Health Sci 2014;1:9-12.  Back to cited text no. 1
    
2.
Cohen MM Jr., Rollnick BR, Kaye CI. Oculoauriculovertebral spectrum: An updated critique. Cleft Palate J 1989;26:276-86.  Back to cited text no. 2
    
3.
Kapur R, Kapur R, Sheikh S, Jindal S, Kulkarni S. Hemifacial microsomia: A case report. J Indian Soc Pedod Prev Dent 2008;26 Suppl 1:S34-40.  Back to cited text no. 3
    
4.
Dhillon M, Mohan RP, Suma G. Hemifacial microsomia: A clinic-radiological report of three cases. J Oral Sci 2010;52:319-24.  Back to cited text no. 4
    
5.
Silvestri A, Natali G, Fadda MT. Dental Agenesis in Hemifacial Microsomia. Pediatr Dent 1996;1:1-8.  Back to cited text no. 5
    
6.
Ullal S, Mahale A, Paudel K. Hemifacial microsomia. Indian J Otolaryngol Head Neck Surg 2008;60:384-6.  Back to cited text no. 6
    
7.
Mielnik-Blaszczak M, Olszewska K. Hemifacial microsomia – Review of the literature. Dent Med Probl 2011;48:80-5.  Back to cited text no. 7
    
8.
Madi M, Shetty SR, Babu SG, Achalli S. Hemifacial microsomia: A case report and overview. Cukurova Med J 2014;39:625-35.  Back to cited text no. 8
    
9.
Charles H. Craniofacial microsomia. In: Grabb & Smith's Plastic Surgery. 6th ed. Lippincott: Williams & Wilkins, A Wolters Kluwer Publisher; 2000. p. 248-55.  Back to cited text no. 9
    
10.
Taysi K, Marsh JL, Wise MD. Familial hemifacial microsomia. Cleft Palate J 1983;20:47-53.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8]



 

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