International Journal of Anatomy and Research, Int J Anat Res 2016, Vol 4(1):2076-79. ISSN 2321-4287 Case Report DOI: http://dx.doi.org/10.16965/ijar.2016.146 GOLDENHAR SYNDROME R Lakshmi Prabha Subhash *, Anupama D, Meenakshi Bhat, Jayarama S Kadandale, Harshal K L. Department of Anatomy, Sri Siddhartha Medical College, Agalakote, Tumkur, Karnataka, India. ABSTRACT Goldenhar Syndrome also called as oculo-auriculo-vertebral dysplasia,is a rare syndrome developing from first and second pharyngeal arches during Blastogenesis.This condition was documented in 1952 by Maurice Goldenharr.The syndrome is charecterised by multiple anomalies of the ocular,auricular,cardiac,skeletal and nervous system.Pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal aberration seen in this syndrome.Multi disciplinary approach should be undertaken by several departments in evaluating such patients. KEY WORDS: Epibulbar dermoid, Micrognathia,Preauricular tags. Address for Correspondence: Dr R Lakshmi Prabha Subhash. MBBS.MS, Professor & HOD, Department of Anatomy, Sri Siddhartha Medical College, Agalakote, Tumkur-572107, Karnataka, India. E-Mail: [email protected] Access this Article online Quick Response code Web site: International Journal of Anatomy and Research ISSN 2321-4287 www.ijmhr.org/ijar.htm Received: 12 Feb 2016 Accepted: 03 Mar 2016 Peer Review: 12 Feb 2016 Published (O): 31 Mar 2016 DOI: 10.16965/ijar.2016.146 Revised: None Published (P): 31 Mar 2016 INTRODUCTION in disturbance of blastogenesis [2]. Goldenhar syndrome (GHS) also called as Goldenhar syndrome has a wide range of Oculoauriculo vertebral dysplasia or hemi facial manifestations including craniofacial, vertebral, microsomia, was first described by Von Arlt in cardiac, renal and central nervous system 1845. It was defined precisely by Goldenhar in anomalies. The classic facial aspect of 1952 as a syndrome characterized by Goldenhar syndrome is described as hemi anomalies like dermal & epibulbar cysts, facial microsomia. The typical presentation of auricular appendices & malformation of the Goldenhar syndrome includes epibulbar ears. In 1963, Gorlin & Pinberg identified the dermoids, microtia, mandibular hypoplasia, vertebral anomalies associated with Goldenhar strabismus, most probably caused by develop- syndrome & named the syndrome as mental defects of first & second branchial “Occuloauriculo vertebral” syndrome [1]. The in- arches and vertebral anomalies [3]. Herein we cidence of this syndrome is about 1 in 5600 live describe a case of Golden Harr Syndrome births with a male preponderance of 3:2. Most reffered to our cytogenetic lab. of these cases are sporadic but an autosomal CASE REPORT dominant pattern is observed. The recurrence risk is about 2 – 3 %. There is a lack of genetic A boy aged about 8 years born to a noncons- linkage & the sporadic occurrence anguineous couple presented to the Oph suggests a multifactorial etiology that includes thalmology department of Sri Siddhartha Medical nutritional & environmental factors that result college and Hospital, Tumkur, India, with the Int J Anat Res 2016, 4(1):2076-79. ISSN 2321-4287 2076 R Lakshmi Prabha Subhash, Anupama D, Meenakshi Bhat, Jayarama S Kadandale, Harshal K L. GOLDENHAR SYNDROME: A CASE REPORT. complaints of blurring of vision since one year DISCUSSION and also had a swelling in his left eye. His Goldenhar syndrome (also known as Oculo- mother’s age at conception was 27 years. She Auriculo-Vertebral Syndrome (OAV syndrome) is was in good health with no history of diabetes a rare disorder charecterised by incomplete or hypertension. She did not give any history of development of the ear, nose, soft palate, lip, drug intake during pregnancy or any history of and mandible. It is associated with anomalous exposure to teratogens. His father’s age at development of the first and second branchial conception was 34 years. He was a non smoker arches during blastogenesis. Classical triad of and was in good health. The patient was born syndrome includes Hemi facial microsomia, through full term normal vaginal delivery in a Epibulbar dermoid and Deformity of ears with local hospital. His birthweight was 2.7 kgs & pre auricular appendage [1,2]. Tsai and Tsai postnatal period was uneventful. He has an reported this syndrome in three consecutive younger female sibling aged about 6 years with generations in a family [1]. In our case all the no obvious clinical illness. There was no h/o features mentioned above were seen. repeated infections or any hearing defect.Patient was reffered for genetic testing and counseling. Ocular manifestations include epibulbar der- moid in 75% of cases,bilateral at infratemporal On examination in the Cytogenetic lab of quadrant [2]. There are choriostomas (nest of Department of Anatomy, SSMC it was noticed normal tissues in abnormal places). Dacryocys- that the patient had obvious facial asymme- titis has been reported in some cases. Other try,microstomia as shown in Fig 1,auricular ocular manifestations are coloboma, micro- appendage of 1cm in front of left ear as shown opthalmos, cataract,iris anomalies, anopthal- in Fig 2. Facial asymmetry on the left side due mos, optic nerve hypoplasia and squint [1]. In to mandibular hypoplasia was seen.No palatal our case left unilateral epibulbar Dermoid in the anomalies seen. Ophthalmic examina-tion infra temporal quadrant was seen. revealed epibulbar dermoid in infratemporal quadrant on left side as in Fig 3 & 4. No colobo- Auricular manifestations are preauricular skin ma or strabismus seen.Fundus was normal. tags,accessory auricle [1]. Anotia is rare and has been reported by Jaison and Batra.(2) Left No vertebral or neurological anomalies Pre auricular tag was seen in our case. seen.Echocardiogram revealed no cardiac abnormalities. Involvement of vertebra and ribs are observed in 24%of cases [3]. Spina bifida is the least Chromosomal analysis showed a normal male severe of all vertebral anomalies. Hemivertebral Karyotype ie, 46, XY. loss of vertebral arch and fusion of posterior elements of cervical vertebrae have been Fig. 1: Facial Assymetry. Fig. 2: Preauricular tag reported [1]. Association of post axial polydactyly with GHS is described [4]. Central nervous system manifestations are seen in 46% of cases.Diffuse cerebral hypoplasia, Dilated lateral cerebral ventricles (asymptom- atic Hydrocephalus), Carpus callosum dysgenesis and frontal hypodensities were the most frequent abnormalities.Arnold chiari Fig. 3: Epibulbar Dermoid. Fig. 4: Epibulbar Dermoid. malformation and facial nerve palsy have also been reported [5]. Cardiac defects include Ventricular septal defects,Patent ductus arteriosus,Fallot’s tetrology,Coarctation of Aorta and pulmonary stenosis [6]. The reported prevelence of cardiovascular anomalies is 5-58%. The other cardiac anomalies reported are Ventricular Int J Anat Res 2016, 4(1):2076-79. ISSN 2321-4287 2077 R Lakshmi Prabha Subhash, Anupama D, Meenakshi Bhat, Jayarama S Kadandale, Harshal K L. GOLDENHAR SYNDROME: A CASE REPORT. inversion associated with double outlet Right of the disease because anomalies of the ventricle, Pulmonary atresia with VSD, Double skeletal or facial bones can be diagnosed by outlet right ventricle and infra diaphragmatic means of several types of imaging techniques total anomalous pulmonary venous connections available today. Radiographic examination of [7]. In our case no cardiac anomaly was rep- zygomatic bones shows a macroscopic orted. deficiency and developmental asymmetry. Uro genital anomalies include Renal agenesis, Pericentric inversion of chromosome 9 is one of hydronephrosis,multicystic dysplastic kidney, the most common structural balanced ectopic kidney and malformed or absent uterus chromosomal abberation seen with incidence of [6,7]. 15% to 25% [3,11]. Facio dental anomalies include hypoplasia of Multidisciplinary approach should be undertaken malar bones, zygomatic arch and mandible, by departments Paediatrics, Cardiology, Macrostomia, Micrognathia, high vaulted cleft Audiology, Ophthalmology and Plastic surgery palate, bifid tongue and malocclusion [1]. GHS in evaluating the patient. Chromosome has also been associated with Cleft lip, cleft analysis should be performed in every patient palate and also Temporo mandibular joint mal- of GHS [11,12]. GHS is also noted in families formation with malocclusion [8]. who had Hydrocephalus, Meningomyelocoele Oculo auriculo vertebral dysplasia represent the and neural tube defects [5]. mildest form of the disorder, GHS presents as The outlook for children with Goldenhar most severe form and hemifacial microstomia syndrome varies, but is generally very positive. appears to be intermediate form. 10-30% have Most children can expect to live a healthy life bilateral manifestations [9]. Family history once treatments have been administered. The suggest Autosomal dominant or Reccessive majority can expect to have a normal lifespan inheritance.Some researchers suggest that the and a normal level of intelligence. disorder may be caused by the interaction of genes in combination with environmental Conflicts of Interests: None factors. It has been suggested that there is a defect in branchial arch development late in the REFERENCES first trimester [10]. [1]. Tsai FJ,Tsai CH. 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