Goldenhar Syndrome: A Case Report with Review of Literature

Abstract

Goldenhar syndrome is a rare congenital anomaly involving the first and second branchial arches. It has been reported with the incidence between 1:3500 and 1:5600, with a male: female ratio of 3:2. The exact etiology is unknown. Most of the cases have been sporadic. This paper presents a rare case of Goldenhar syndrome in a 6 year old boy reported to us for the ear prosthesis.Keywords: Goldenhar syndrome; Hypoplasia of malar Bone; Facial palsy; Ear tags; Ocular dermoids vertebral malformation complex [1,2]. We are reporting a case of Goldenhar syndrome in a 6 year old boy with ear deformities, ocular dermoids, facial paralysis, mental retardation and skeletal abnormalities with hypoplasic malar and maxillary bone. Case ReportA 6 year old male patient, born of non consanguineous marriage, presented to our department with the complaint of deformed left ear since birth. It was associated with decreased hearing. Medical history revealed cleft palate surgery at the age of 1 year. The child was born of a full-term normal delivery and there was no history of any maternal illness during the pregnancy. But the child was cyanotic at the time of birth. All other family members were normal. Personal history showed normal bowel and bladder habits, undisturbed sleep. On General Examination, he was conscious and cooperative but had reduced grasping power and learning skills. Vital signs were within normal limits with no peripheral signs. Altered posture was noticed as the shoulder levels were not at same level (Figure 1). On extra oral examination, facial asymmetry was detected due to hallowing of left cheek and hypoplasia of left malar region, hypoplasia of maxillary bone and prognathic mandible (Figure 2). Facial profile was straight and leptoprosopic facial form was noticed. Deformed left ear and ear tags were seen on the right side (Figure 3). Hypertelorism was present. Ocular changes showed whitish area near outer canthus of both eyes approximately measuring 1X1cms suggestive of epibulbar dermoids on both sides (Figure 4). Cranial nerve examination revealed left facial nerve paralysis as he was unable to raise his eyebrows, no wrinkles on the forehead and unable to blow the cheeks on left side. On Intraoral Examination, palatal scar noticed suggestive of previous surgery for cleft palate and hard tissue examinations showed multiple root stumps and Angle's class III malocclusion. The orthopantomograph showed mixed dentition ( Figure 5) and the lateral cephalograph revealed malar and maxillary hypoplasia ( Figure 6). We diagnosed the patient as a case of Goldenhar syndrome on the basis of multiple accessory tragi, ocular dermoids, hypoplastic malar process, facial nerve paralysis, mental retardation and skeletal abnormalities. Patient was referred for auricular surgery followed by ear prosthesis replacement.

Oculo-auriculo-vertebral spectrum with radial defects, a bifid condyle and taurodontism: A case report

“…The treatment depends on the patient's age and systemic manifestations, but generally requires a multidisciplinary approach. [13][14][15][16][17][18][19][20] In order to correct a craniofacial malformation, a team consisting of a maxillofacial and plastic surgeon, orthodontist, speech therapist, etc. is required, with limited mouth opening to improve the mechanical removal of plaque.…”

Оcular manifestation in Goldenhar syndrome- case report

“…Едно од секои седум новородени со окуло-аурикуло-вертебрална (OAV) дисплазија (синдрoм Голденхар) има и вродено срцево заболување. Педесет проценти од тие пациенти со срцеви аномалии имаат тетралогија на Фалот, која обично е тешка и бара ран третман, уште во доенечкиот период 5,6 .…”

Goldenhar syndrome associated with genital tract abnormality

“…The incidence of this syndrome, first described by Maurice Goldenhar in 1952,2 is described between 1:3500 and 1:45 000 3. Originally, it was described as a triad of mandibular hypoplasia, epibulbar dermoid and pre-auricular skin tags 4.…”