156 Case Report Facio-auricular vertebral syndrome—a case report M. V. V. Reddy, P. P. Reddy*, P. Usha Rani*, L. Hema Bindu* Department of E.N.T, Osmania Medical College, Hyderabad, *Department of Environmental Toxicology, Institute of Genetics and Hospital for Genetic Diseases, Ameerpet, Hyderabad, India. malformed outer ear (anotia and microtia), narrow or Facio Auricular Vertebral (FAV) or Goldenhar syndrome is a very rare kind of syndromic deafness and is inherited as missing ear canals (atresia), abnormal skin cartilage on autosomal dominant. A study was taken up to understand or in front of the ears (preauricular tags) and abnormali- the prevalence of this syndrome in children below the age [1] of 14 years with hearing loss. Out of 1073 children with ties in the middle or inner ear. Goldenhar syndrome is hearing impairment, Goldenhar syndrome was observed mostly a sporadic condition and is inherited very rarely.[2] only in 1 (0.09%) case. The child suffered severe hearing While many cases of Goldenhar syndrome associated loss. Facial paralysis and hemifacial microsomia were prominent features observed in the child. Facio-Auricular- with hearing handicap are reported from all over the Vertebral syndrome is therefore synonymously used with globe, studies carried out from India are meager. Hence Goldenhar syndrome. a study was taken up on children with congenital hear- Key words: Hemifacial microsomia, Vertebral anomalies, ing loss to understand the prevalence of this syndrome Atresia, Dermoid cyst, Sensorineural, Hearing loss, in India. Goldenhar syndrome Case History Goldenhar syndrome is present in 1 in 1000 children with congenital deafness. In many cases, this syndrome The proposita is a three year old female child referred goes unnoticed in Indian population due to the lack of from an eye hospital for evaluation of hearing to the knowledge about its features. The main aim of this study Govt ENT hospital. The proband is the second child of was to determine the incidence of this syndrome in healthy non-consanguineous parents. The child was Hyderabad population. FAV syndrome was first recorded delivered vaginally at home and the birth weight of the by German physician Carl Ferdinand Von Arlt in 1845 child was 2000g (percentile). The child had birth as- and Goldenhar in 1952 defined the syndrome more phyxia. Antenatal and intranatal periods were unevent- clearly.[1] First and second branchial arch anomalies, ful. Dismorphic features such as small mouth, the atretic otomandibular dysostosis and hemifacial microsomia right external ear canal and an accessory auricle (tag) was proposed as Goldenhar syndrome or facioauriculo in the left preauricular region were noted immediately in vertebral syndrome.[1] This syndrome is also referred to the child. Left facial paralysis and hemifacial microso- as oculo-auriculo-vertebral (OAV) syndrome because mia was also observed [Figure 1]. Micrognathia, limbal of the association of ocular anomalies. The incidence dermoid cyst was seen in the right eye [Figure 2]. The of this syndrome is 1 in 3500 to 5000 live births and the first child, a boy and the third child, a girl were normal. male to female ratio of this syndrome is 3:2. The syn- Physical examination of the child showed undernour- drome may or may not be associated with hearing loss. ishment and weighed 10kgs. The child had short stat- Conductive and / or sensorineural hearing loss is present ure, frontal bossing, left facial paralysis (lower motor in 50% of the patients with this syndrome. The etiology neuron lesion), short neck, bilateral microtia associated of the hearing loss is varied and may include missing or with meatal stenosis of the right ear and accessory au- Address for Correspondence : P. P. Reddy, Department of Genetic Toxicology, Institute of Genetics and Hospital for Genetic Diseases, Ameerpet, Hyderabad, Andhra Pradesh–500 016, India. E-mail: [email protected] Indian Journal of Human Genetics September-December 2005 Volume 11 Issue 3 Goldenhar syndrome 157 examination, blood urea and serum creatinine were in normal levels. Cranial neurosonogram performed at the age of one month showed increased perventricular echogenicity, mild dilation of lateral ventricules associ- ated with shaggy bulky outline of choroid plexus. Ultra- sound findings of the child showed contracted gall blad- der. Discussion The combination of several features such as micro- tia, hemifacial microsomia, lateral facial cleft, epibulbar dermoid and upper eye lid coloboma is described as oculo-auriculo-vertebral spectrum (OAV).[1] The pres- ence of otic hypoplasia, lateral facial cleft and vertebral Figure 1: Shows the left sided facial paralysis anomalies are the minimum criteria for the diagnosis of Goldenhar syndrome. The incidence of Goldenhar syn- drome is extremely rare.[3] The etiology is not known, but is thought to be due to exposure to viruses or chemi- cals during pregnancy, due to abnormal vascular sup- ply to the first arch and abnormality of mesoblastic de- velopment affecting the formation of vertebral and bran- chial systems.[4] Some researchers suggest that the dis- order may be due to interaction of many genes with environmental factors (multifactorial inheritance).[4-6] Approximately 5000 children are born every year in United States with significant hearing impairment.[1] Goldenhar syndrome associated with deafness is rare and in most cases it occurs randomly without any ap- parent cause. Most cases are sporadic, but family his- tory was also observed in certain cases. Individuals af- fected in successive generations have been observed.[7- Figure 2: Shows right Perilimbal dermoid cyst 8] The ear anomalies include external ear tags and aural fistulae.[9-14] In this case, the child showed malformation ricle in the left preauricular region. of the pinna associated with meatal atresia and auricu- X-ray of the chest showed revealed cardiomegaly, lar tags bilaterally. The behavior observation audiom- roentgenogram of cervical spine showed third etry (BOA) showed 80-90 decibel hearing loss in both hemivertebrae and fusion of fourth and fifth cervical the ears. A 9 year old girl was reported with facial asym- vertebrae. No evidence of scoliosis. CT-scan of the tem- metry, right ear with 2nd degree dysplasy and 3rd degree poral bone showed sclerosis of middle/inner ear bilater- in the left ear[15] and a 10 day old patient was also re- ally with hypoplastic left internal auditory canal and ported with atresia and malformation of the tympanic doubtful choleseatoma on right side with no evidence cavity and ossicles.[16] With Goldenhar, the vertebral of bony erosion. Audiogram report showed bilateral se- malformations include fusion or missing of the verte- vere sensorineural hearing loss in both the ears. brae. However in the present case the child showed the Systemic examination did not reveal any cardiovas- fusion of fourth and fifth cervical vertebrae. A small per- cular or renal abnormality. Hemogram, complete urine centage also has mental retardation associated with this 158 Reddy et al. syndrome. Epibulbar dermoids and lipodermoids, spectrum. Ann J Med Genet 1993;46:423-6. 4. Robinow M, Reynolds JF, Fitzgerald J, Bryant JA. Hemi- coloboma of the eyelid, microphthalmia, strabismus and facial microsomia, ipsilateral facial palsy, and malformed retinal anomalies are the associated ocular problems in auricle in two families:An autosomal dominant malforma- tion. Am J Med Genet Suppl 1986;2:129-33. Goldenhar syndrome.[17] Micrognathia limbal dermoid 5. Rollnick BR, Kaye CI. Hemifacial microsomia and cyst was seen in the right eye of the child in this case. variants:Pedigree data Am J Med Genet Suppl 1985;1:287-95. Children with FAV syndrome should be assessed for 6. Taysi K, Marsh JL, Wise DM. Familial hemifacial both vision and hearing. They may be subjected to nu- microsomia:Cleft palate. J 1983;20:47-53. merous surgeries to correct the jaw and dental abnor- 7. Regenbogen L, Godel V, Goya V, Goodman RM. Further evidence for an autosomal dominant form of malities. The structural anomalies of the eyes and ears oculoauriculovertebral dysplasia. Clin Genet in Goldenhar syndrome can be corrected by plastic sur- 1982;21:161-7. [16] 8. Moeschler J, Clarenren SK. Familial occurrence of hemi- gery. Expression of MSX class genes permit clear facial microsomia with radial limb defects. Am J Med understanding of the variability and different degrees of Genet 1982;12:371-5. severity of the anomalies of OAV spectrum. The MSX 9. Setzer ES, Ruiz Castaneda N, Severn C, Ryden S, Frias JL. Etiologic heterogeneity in the oculoauriculovertebral homeobox genes also play a crucial role in the differen- syndrome. J Pediatr 1981;98:88-91. tiation of first branchial arch.[17] 10. Thomas P. Goldenhar syndrome and hemifacial microsomia:Observations on three patients. Eur J Pediatr 1980;133:287-92. Acknowledgements 11. Cohen MM Jr. Variability versus “Incidental findings” in the first and second branchial arch syndrome: Unilat- eral variants with anophthalmia. Birth defects 1971;7:103-8. We are greatful to the superintendent of Government 12. Herrmann J, Opitz JM. A dominantly inherited first arch ENT hospital and Principals of various schools for deaf syndrome. Birth defects 1969;5:110-2. for their kind co-operation. We are also highly indebted 13. Summit RL. Familial Goldenhar syndrome. Birth defects 1969;5:106-9. to the parents of the child without whose support the 14. Grabb WC. The first and second branchial arch syndrome. study wouldn’t have been possible. Plast Reconst Surg 1965;36:485-508. 15. Santa Cruz RS, Aguirre GF, Perez PD, Blanco PP, Guillen GV, Del CA. Goldenhar syndrome:a polymalformation References syndrome with conductive hearing loss. Ann Otorrinolaringol Ibero Am 2000;27:161-7. 16. Scholtz AW, Fish JH 3rd, Kammen-Jolly K, Ichiki H, Hussl 1. Gorlin RJ, Cohen MM, Levin LS. Syndromes of the head B, Kreczy A, et al. Goldenhar syndrome:congenital hear- and neck.