A REPORT OF HEMIFACIAL MICROSOMIA IN A 7-YEAR OLD MALE

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1 A REPORT OF HEMIFACIAL MICROSOMIA IN A 7-YEAR OLD MALE Monika Koul, Warisha Akhlaq, Sajid S Shaikh, Ahsan Abdullah University Journal of Dental Sciences Case Report ABSTRACT : Hemifacial microsomia (HFM) is a congenital disorder which is characterized by the anomalies of the face, eyes, ears and the vertebrae. After cleft lip and palate HFM is the most common craniofacial malformation. It may be familial or sporadic; is more common in males especially on the right side of the face. The clinical manifestations may be facial asymmetry, malocclusion, macrostomia, micrognathia, microtia to anotia of the external ear, pre-auricular skin tags, and epibulbar tumors of the eyes. The treatment requires an interdisciplinary approach. KEYWORDS: First and second branchial arch syndrome, Facial dysplasia, Craniofacial microsomia. Source of support : Nil Conflict of interest: None INTRODUCTION: Hemifacial microsomia (HFM) is a birth defect that occurs when part of the face appears small or underdeveloped on one side. It is also known as lateral / facial dysplasia, first and second branchial arch syndrome, otomandibular dysostosis and craniofacial microsomia. It is a syndrome of first and second branchial arches involving underdevelopment of the temporomandibular joint, mandibular ramus, masticatory muscles, ears and occasionally defects in cranial nerves and muscles.1 HFM was first described by German physician Carl Ferdinand Von Arlt2 in Gorlin et al3 used the term HFM to describe patients with unilateral microtia, macrostomia and malformation of mandibular ramus and condyle. Its clinical picture has a variety of expressions ranging from a little asymmetry of the face to severe underdevelopment of one facial half with orbital implications, a partially formed ear or even total absence of the ear. The chin and the facial midline are off-centered and deviated to the affected side. Often, one corner of the mouth is situated higher than the other, giving rise to an oblique lip line. There may be unilateral hypoplasia of maxillary and temporal bones, unilateral shorter zygomatic arch, malformation of the external and internal ear. Auditory problems and facial nerve dysfunction are also very common [30-50%].1,4 Intraorally, supernumerary teeth, agenesis of second premolar and third molar, enamel malformation and delayed teeth development may be present on the affected side. This article reports a case of HFM in a 7 year old male. CASE REPORT : A seven-year old boy reported to the department of Paedodontics and Preventive Dentistry in CPGIDS and Hospital, Lucknow with a chief complaint of carious teeth and intermittent pain while eating in lower right and left back regions of the jaw since one month. On intraoral examination, the mandibular right first and second deciduous molars [84 and 85] were found to be grossly carious with pulp exposure and pain on percussion. While on the left side there was deep caries in first and second deciduous molars [74 and 75]. IOPA- Xrays were advised for both sides of mandibular molars. On general examination, the child was moderately built, cooperative and alert. The gait and posture were normal. A provisional diagnosis of Hemifacial microsomia [HFM] was made. The medical, dental and family histories were noncontributory. An orthopantomogram (OPG) was advised and revealed mandibular deviation on the left side, thin borders in the body of mandible, prominent angle and short ramus height University Journal of Dental Sciences, An Official Publication of Aligarh Muslim University, Aligarh. India 95

[Figure-1]. Figure 1) An orthopantomogram [OPG] showing short ramus height on left side.

oblique lip-line, thin border in the body of mandible, short ramus, prominent angle of

The parents gave a history of malformed ear since birth with reduced hearing ability

Pulpectomy for right and pulpotomy for left mandibular molars was performed (Figure 5a

A temporary ear prosthesis made up of silicone was given for malformed ear for esthetic

side with deviated corner of the mouth. theleft side.

2 [Figure-1]. Figure 1) An orthopantomogram [OPG] showing short ramus height on left side. Extra-oral examination revealed facial asymmetry on the left side with macrostomia, an oblique lip-line, thin border in the body of mandible, short ramus, prominent angle of mandible and microtia on left side (Figure 2, 3, 4). The parents gave a history of malformed ear since birth with reduced hearing ability from the left side with no external acoustic meatus. Pulpectomy for right and pulpotomy for left mandibular molars was performed (Figure 5a and 5b). A temporary ear prosthesis made up of silicone was given for malformed ear for esthetic purposes that was fabricated in the department of Prosthodontics (Figure 6a,6b,7 ). Figure 4) Left lateral profile of patient showing microtia and pre auricular skin tag. Figure 5a) Figure 2) Frontal view of patient showing reduced growth of mandible on left side with deviated corner of the mouth. theleft side. Figure 5b) Figure 5a and 5b) After pulpectomy (84,85) and pulpotomy(74, 75) procedures restored with stainless steel crowns. Figure 3) Right lateral view of patient. Figure 6a) University Journal of Dental Sciences, An Official Publication of Aligarh Muslim University, Aligarh. India 96

Figure 6b) Figure 6a) Wax try-in of left auricular prosthesis. 6b) Fabricated silicone auricular prosthesis. Figure 7) Patient with left auricular prosthesis aided with spectacles. DISCUSSION 1.

Haemorrhage associated with the formation of stapedial artery system during embryogenesis that disrupts the normal development of the first and second branchial arch derivatives is the most widely

3 Figure 6b) Figure 6a) Wax try-in of left auricular prosthesis. 6b) Fabricated silicone auricular prosthesis. Figure 7) Patient with left auricular prosthesis aided with spectacles. DISCUSSION 1.ETIOLOGY- The pathogenesis of HFM is unclear, but several theories have been based on embryologic, clinical and laboratory studies. Haemorrhage associated with the formation of stapedial artery system during embryogenesis that disrupts the normal development of the first and second branchial arch derivatives is the most widely accepted theory for its pathogenesis.5 McKenzie on earlier embryologic observations, postulated that abnormal development of the stapedial artery could explain the constellations of abnormalities in HFM. During embryonic weeks 3 to 5, the blood supply to the first branchial arch depends on the successive relay of the three vessels namely (a) the first aortic arch (b) the stapedial artery [a second branchial arch derivative] and finally (c) the definitive blood supply from external carotid artery. He reasoned that any disruption of this sequence, which needed to be precisely timed and coordinated could result in ischaemia to embryonic tissue during a critical period of rapid growth and differentiation.6 Poswillo was successful in creating phenocopy of what he called the first and second branchial arch syndrome in the offsprings of mice and monkeys administered with teratogens triazene and thalidomide, respectively. Microscopic examination of the affected embryo revealed hematomas surrounding the anastomoses of the developing stapedial artery.5 Poswillo further hypothesized that variations in the size and shape of haematoma would explain the phenotypic variability; the larger the haematoma, the more structures would be involved and the larger time would take for the haematoma to resorb and thus the less time for the embryonic tissue to repair and redifferentiate. Investigators have reported a transgenic mutation of a locus termed Hfm B1 to B3 on chromosome 10 in a mouse model that seems to provide an insight into the pathogenesis of HFM. In particular the model supports the hypothesis that at least some of the anomalies associated with HFM have a genetic basis mediated via mesenchymal disruptions and possibly embryonic haemorrhages, showing rupture of the stapedial vasculature. This further lends credence to the theory of stapedial artery rupture and resultant haematoma and ischaemia that was formulated nearly five decades earlier.7,8,9 Johnston proposed the hypothesis that a deficiency in neural crest cell migration to the region of the first and second pharyngeal arches explains the pathogenesis of HFM and microtia. Laboratory studies suggest that an early loss of neural crest cells may be the specific factor responsible for the clinical presentation of HFM. The extent of the neural crest cells reflects the degree of severity of the facial deficiency. Increased incidence within the families has been documented which suggests the possibility of genetic inheritance.10,11 For unaffected parents with one child affected with HFM, the chances for the second child to be affected with HFM are lower than 1%.Parents affected with HFM have approximately 3% chance of passing the condition to their offspring DIAGNOSIS- Diagnosis can be made before or after birth. At prenatal some of the abnormal structures are visible during prenatal ultra sounds and postnatally the majority of the children are diagnosed after birth. And the diagnosis is generally based on clinical features and mandibular deformity is the hallmark of HFM. X-rays that are useful may be :- An Orthopantomogram This provides an excellent view of the osseous structures of the mandible and the maxillofacial complex. An occlusal radiograph depicts osseus integrity of the palatal vault in cases accompanied by cleft palate. Lateral cephalogram is University Journal of Dental Sciences, An Official Publication of Aligarh Muslim University, Aligarh. India 97

used to ascertain the relationship of the mandible and the maxilla to the cranial base. Posterior-Anterior view of the frontal skull can depict the degree of osseus asymmetry of the face.

comparative muscle development. OTHER tests are 1. Clinical appearance of the ear: - microtia or anotia on the affected side is a clinical marker of HFM. 2.

4 used to ascertain the relationship of the mandible and the maxilla to the cranial base. Posterior-Anterior view of the frontal skull can depict the degree of osseus asymmetry of the face. Computed tomography or CT provides a three dimensional view of the soft tissue of the face and an image of the underlying bone and Magnetic Resonance Imaging [MRI] or CT scans can get information on comparative muscle development. OTHER tests are 1. Clinical appearance of the ear: - microtia or anotia on the affected side is a clinical marker of HFM. 2. Hearing deficiencies at birth that leads to language impairment and learning difficulties. 3. Speech defects especially when associated with cleft palate as the integrity of the muscles contributing to the palate are also involved in equalizing the air pressure of the ear. The audiologist and the speech pathologists are integral members of the diagnostic team for hearing evaluation, phonic tests, laryngoscopic inspection and vocational analysis and help in establishing patient's anatomical, neurological and functional status. An orthodontist, a pediatric dentist, a maxillofacial surgeon and a prosthodontist are involved in the diagnostic process of these patients. DIFFERENTIAL DIAGNOSISa. Treacher Collin Syndrome or Mandibulofacial dysostosis Treacher Collin Syndrome shows a well- defined pattern of inheritance and unlike HFM it is always bilateral. Zygomatic area and lateral orbital rim are deficient and the medial lower eyelashes are absent. The other distinguishing features are deficient or absent condyles and muscles, short ramus and retrognathia (Figure 8). Figure 8) showing features of Treacher Collin Syndrome b. Goldenhar's syndrome HFM differs from Mandibulofacial dysostosis in several aspects. In contrast to latter, it is unilateral, there is less hypoplasia of malar bones with no evidence of hereditary pattern. Colobomas of lower eyelids do not occur in HFM and anti-mongoloid obliquity of the lids is minimal if present at all. Neuromuscular structures are commonly affected in HFM but not in Mandibulofacial dysostosis. Goldenhar's syndrome consists of epibulbar dermoids/ lipodermoids which are not seen in HFM. Upper lid colobomas occurs in Goldenhar's syndrome (Figure 9) and not in HFM or Mandibulofacial dysostosis. Vertebral anomalies such as cervical spinal fusion, spina bifida occurs in Goldenhar's syndrome and are absent in HFM and Mandibulofacial dysostosis. There is no unilateral form of Mandibulofacial dysostosis. Figure 9) showing features of Goldenhar's syndrome TREATMENT- Surgical treatment: It depends upon the severity, the area affected and the long term needs of the patient. Not all children with HFM have problems in all those areas, some interventions may be required if these areas are affected. Consultation with an experienced craniofacial team is extremely important to achieve the best outcome. 1. EARS - Reconstruction surgeries or by prosthetic / artificial ear Reconstruction surgeries typically after 6 years of age when ears have reached almost adult size. 2. Eyelids difference- Surgical procedures to reposition the lower eyelids and corners of the eyes may be required. 3. Soft tissue difference children with skin, cheek and other soft tissue deficiencies may need augmentation procedures such as fat grafting or tissue transfer. 4. Cleft lip/ cleft palate- Surgical repair during the University Journal of Dental Sciences, An Official Publication of Aligarh Muslim University, Aligarh. India 98

5 child's first year. 5. Lateral facial cleft- This is the most severe deficiency found with HFM. Staged reconstructions like in routine cleft lip and palate repair is done. In this procedure a ring of muscle around the child's mouth is created connecting the corners and drawing up the lateral line of lower lip; helps feeding and speaking. 6. Bone deficiencies- In mild bone deficiencies no treatment may be needed. In severe cases surgery may be required. The two commonly performed procedures are Distraction lengthening of the mandible and reconstruction of the mandible with a rib or free vascularized fibular graft. Supportive treatment at birth- Respiratory support or a tracheostomy if the jaw is severely deficient. In most cases, the child's airway can be managed conservatively. If accompanied by clefts, feeding through a nasogastric tube can be done. CONCLUSION : Early diagnosis and timely intervention in HFM patients should be made to establish and maintain their physical, social and emotional status. REFERENCES 1. Rao S, Nagesh KS, Iyengar A, Gupta J. Hemifacial Microsomia-A Case Report. Journal of Indian Academy of Oral Medicine and Radiology 2005 ;17(4): Choudhary SH, Kale LM, Mishra SS, Swami AN. Hemifacial microsomia: A rare case report. Journal of Indian Academy of Oral Medicine and Radiology 2015 ;27(4): Mielnik-B³aszczak M, Olszewska K. Hemifacial microsomia Review of the literature. Dent Med Probl 2011;48(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: Poswillo D: The pathogenesis of the first and second branchial arch syndrome. Oral surg Oral med Oral Pathol 1973; 35: Mckenzie. J: The first arch syndrome. Asch Dis Child 1958 ;33: Cousley R, Naora H, Otani H. Validity of HFM transgenic mouse as a model for hemifacial microsomia. Cleft Palate Craniofac J 2002 ;39: Naora H, Kimura M, Otani H. Transgenic mouse model of hemifacial microsomia : cloning and characterization of insertional mutation region on chromosome 10. Genomics 1994 ;23: Tanaka T Uhthoff. The pathogenesis of congenital vertebral malformation. A study based on observations made in 11 human embryos and fetuses. Acta Orthop Scand 1981;52: Johnston C, Bronsky PT : Animal models for human craniofacial malformations. J Craniofac Genet Dev Biol 1987 ;7: Thomas JT, Frias JL: The heart in selected congenital malformations: a lesson in pathogenetic relevations. Ann Clin Lab Sci 1987 ;17: Rollnick BR, Kaye CI: Hemifacial Microsomia and the branchio-oto-renal syndrome. J Craniofacial Genet Dev Biol 1985 ;1: Munjal D. Hemifacial Microsomia-A Case Report & Review of Literature. Journal of Indian Academy of Oral Medicine and Radiology 2006 ;18(1): Horgan J, Padwa B, LaBrie R.OMENS-plus Analysis of craniofacial anomalies in hemifacial microsomia. Cleft Palate Craniofac J 1995 ;32:405 CORRESPONDING AUTHOR: Dr. Monika Koul House No.130, Sector 1, Vikas Nagar, Lucknow, Uttar Pradesh kxcama@yahoo.co.in University Journal of Dental Sciences, An Official Publication of Aligarh Muslim University, Aligarh. India 99

What is Hemifacial Microsomia? By Pravin K. Patel, MD and Bruce S. Bauer, MD Children s Memorial Hospital, Chicago, IL

What is Hemifacial Microsomia? By Pravin K. Patel, MD and Bruce S. Bauer, MD Children s Memorial Hospital, Chicago, IL 773-880-4094 Early in the child s embryonic development the structures destined to