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Goldenhar Syndrome Peter Jajou DO PGY-3 Dermatology Resident; Beaumont Health; Trenton, MI

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Goldenhar Syndrome Peter Jajou DO PGY-3 Dermatology Resident; Beaumont Health; Trenton, MI Goldenhar Syndrome Peter Jajou DO PGY-3 Dermatology Resident; Beaumont Health; Trenton, MI Case Presentation When considering the diagnosis of Goldenhar syndrome, the physician has to be aware that 50% of patients will have other systemic involvement. Renal agenesis, A 2-year-old Caucasian female was born with right aural atresia and pulmonary agenesis, cardiac structural defects, cleft lip and palate, macrostomia, microtia, dermoid cyst of the iris, and accessory tragus. The patient micrognathia, tracheoesophageal fistulas, umbilical hernia, cognitive was born via C-section to a 28-year-old, G3P2 mother, at 40 weeks developmental delays, and webbing of the neck are all known associations. The gestation. All fetal ultrasounds were unremarkable throughout the most common cardiac defects are Tetralogy of Fallot and ventricular septal pregnancy, and the subsequent delivery was uncomplicated. The defects. Other syndromes associated with multiple pre-auricular tragi to consider patient failed her newborn BAERS hearing screen on the right and in the differential diagnosis include Treacher-Collins syndrome, Wolf-Hirschhorn passed on the left. syndrome, Nager's acrofacial dysostosis, Townes-Brocks syndrome, and Delleman syndrome. At the time of birth, no family history of birth anomalies were apparent. Past medical history is unremarkable. Treatment options vary based on age and systemic involvement and are mainly cosmetic in less complicated cases. More severe cases will require aggressive At six months of age, pediatric geneticists at a tertiary care center surgical intervention early on to avoid vision and hearing loss. Reconstructive evaluated the patient. A clinical diagnosis was rendered and genetic surgery can be performed on the external ear at age 6-8 and the jaw in early testing was ordered. teens. Epibulbar dermoids should be surgically excised. A multidisciplinary approach including otolaryngology, ophthalmology, pediatrician, and dermatology is necessary. Prognosis is good in uncomplicated cases with minimal Examination: The patient displayed appropriate milestones for her age. systemic involvement. The right ear displays aural atresia and microtia. Additionally, the right preauricular region showed a firm, flesh colored nodule, consistent with Patient Course & Therapy an accessory tragus. The left eye displayed a yellowish-white, elevated mass on the iris at the 5-o’clock position, consistent with epibulbar At one year of age, the accessory tragus was removed, but currently, it dermoid cyst. seems to be regrowing in the same location. The patient visits her ophthalmologist every three months for close monitoring. To date, reports show her vision is unaffected. She also visits with Labs: Chromosomal Microarray (CMA), Full Spine Xray, Echocardiogram otolaryngologist every three months for auditory monitoring. A CT of the right temporal bone is planned when she is 5-years-old in order to Discussion examine the internal structures of the ear, and determine if opening the Goldenhar syndrome as described by the French ophthalmologist Maurice external auditory canal is worth pursuing. Additionally, she sees Goldenhar in 1952 consisted of a clinical triad of features including accessory craniofacial surgical specialists once a year. tragie, mandibular hypoplasia, and ocular epibulbar dermoids. In 1963 Gorlin et al., observed additional vertebral anomalies in association with Goldenhar’s The need for close and diligent follow up is required in order to syndrome and termed it oculo-auriculo-vertebral dysplasia. Subsequently, both evaluate new or changing phenomenon as she progresses and develops terms have been used interchangeably. The syndrome has a heterogenous in age. To date, all her developmental milestones have been achieved. phenotype with patients presenting with a varying spectrum of anomalies affecting the eyes, ears, and vertebrae. Mandibular hypoplasia has also been No family history of birth anomalies were noted at the time of her birth. observed. Abnormalities are found only unilaterally in 85% of cases and However, this past year, a first cousin was born with a dermoid cyst bilaterally in 10-33%. above her eyebrow. Whether these events are related or not remains to be determined. Classically the features of this syndrome can include ocular changes such as epibulbar dermoids, lipodermoids, anophthalmia, micropthalmia, and coloboma. Conclusion Aural features may include pre-auricular skin tags, hearing loss, atresia of the Goldenhar syndrome is a rare congenital developmental anomaly external meatus, and microtia. Vertebral anomalies consist of scoliosis, cervical affecting the first and second branchial arches. Classic features fusion, atlas occipitalization and hemivertebrae. of the syndrome include ocular, aural, and vertebral developmental defect. Failed newborn screens can be the key While the exact etiology remains largely unknown, it is known that the syndrome clue for rare syndromes and they should be pursued with a is a congenital anomaly affecting the first and second branchial arches. Abnormal thorough work-up. A multidisciplinary approach may be embryonic vascular supply and disrupted mesodermal migration have been required. proposed as causes. Autosomal dominant, autosomal recessive and multifactorial References inheritance patterns have also been suggested. Ingestion of drugs during 1. M. Goldenhar. Associations malformatives de l’oeil et de l’oreille, en pregnancy such as thalidomide, retinoic acid, tamoxifen, heavy alcohol, and particular le syndrome dermoïde epibulbaire-appendices auriculaires- cocaine have been suggested along with maternal diabetes, rubella, and fistula auris congenita et ses relations avec la dysostose mandibulofaciale. influenza as etiologic factors. One case of the syndrome reported vitamin A Journal de génétique humaine, Genève, 1952, 1: 243-282. toxicity in the mother. A daily dose of 25000IU produces a teratogenic effect on 2. Gaurkar, S. P., Gupta K. D., Parmar, K. S., & Shah, B. J. (2013). Goldenhar neural crest cell formations which are necessary for proper pharyngeal arch Syndrome: A Report of 3 Cases. Indian Journal of Dermatology, 58(3), 244. development. 3. Ashokan, C. S., Sreenivasan, A., & Saraswathy, G. K. (2014). Goldenhar Syndrome – Review with Case Series. Journal of Clinical and Diagnostic Research : JCDR, 8(4), ZD17-ZD19 RESEARCH POSTER PRESENTATION DESIGN © 2012 www.PosterPresentations.com.
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