Grand Rounds Goldenhar Syndrome Mark A Ihnen, M.D. University of Louisville School of Medicine Department of Ophthalmology & Visual Sciences 6/20/2014

Presentation CC:“white lesions on the eye” CC:“white lesions on the eye” HPI: 20 day-old male infant with a h/o complex congenital heart disease who was noted to have 2 masses at the limbus of the right eye. HPI: 20 day-old male infant with a h/o complex congenital heart disease who was noted to have 2 masses at the limbus of the right eye. PMH: PMH: –Congenital heart disease: DORV, TGA, large VSD and coarctation of aorta/hypoplastic aortic arch. –Multiple dysmorphic facial features. POH: none POH: none Birth History: Birth History: –Gestational Age: 37 weeks, uncomplicated delivery.

Exam 4→3 BCVA P T dig BTL 4→3 No APD soft EOM: Grossly Full OU DFE: WNL OU

Clinical Photograph

External Exam Photo: OD Clinical photo demonstrating two (temporal and inferior) limbal dermoids.

Anterior Segment Findings ODOS ExternalMultiple dysmorphic features including bilateral preauricular skin tags, high arched palate, right maxillary and mandibular hypoplasia, and micrognathia L/Lwnlwnl Conjwnl wnl K temporal and inferiorwnl limbal dermoids ACwnlwnl Iris wnlwnl Lenswnlwnl

Assessment 20 day-old male infant with multiple congenital cardiac defects, right-sided hemifacial hypoplasia, preauricular skin tags and limbal dermoids OD. 20 day-old male infant with multiple congenital cardiac defects, right-sided hemifacial hypoplasia, preauricular skin tags and limbal dermoids OD. DDX: DDX: –Goldenhar Syndrome or Oculo-Auriculo- Vertebral Syndrome (OAV)

Plan  Genetics department re-consulted and recommended Chromosomal Microarray Analysis (CMA), renal ultrasound and hearing test.  Renal ultrasound normal.  Hearing test results abnormal.  CMA results normal.  Follow-up in outpatient Pediatric Ophthalmology clinic.

Hospital Course Pt underwent multiple cardiopulmonary and surgical procedures: Pt underwent multiple cardiopulmonary and surgical procedures: –Aortic coarctation repair –Pulmonary artery banding with atrial septectomy and subaortic myomectomy –Tracheostomy –Nissen fundoplication with G-tube –Coded twice during hospital course

Clinical Course Discharged home after an extended three month hospitalization. Discharged home after an extended three month hospitalization. 2 weeks later, patient expired secondary to cardiopulmonary arrest at home. 2 weeks later, patient expired secondary to cardiopulmonary arrest at home.

Goldenhar Syndrome Background Background –First described by Maurice Goldenhar, MD ( ) in –Also known as Oculo-Auriculo-Vertebral syndrome (OAV) –Defect in the development of the first and second branchial arches. Incidence : Incidence : –Incidence is approximately 1 per 25-45,000 births. –Male to female ratio, 2:1. Genetics: Genetics: –Most cases are sporadic, but there are very rare familial cases that exhibit autosomal dominant inheritance Hemifacial Microsomia, Online Mendelian Inheritance in Man (OMIM)

Goldenhar Syndrome: Findings Ocular: Ocular: – Limbal dermoids (most common) – Eyelid colobomas –Associated with Duane Syndrome –Micropthalmia Systemic: Systemic: –Pre-auricular skin tags with microtia or anotia –Skeletal anomalies including hemifacial microsomia and vertebral hypoplasia –Cardiac, neurologic and renal defects –Deafness –Facial weakness Martelli-Junior H, Miranda RT, Fernandes CM, et al; Goldenhar syndrome: clinical features with orofacial emphasis. J Appl Oral Sci Dec;18(6):646

Goldenhar Syndrome: Treatment and Prognosis Ophthalmic Management: Ophthalmic Management: –Surgical excision may be required to excise large limbal dermoids if causing occlusive or astigmatic amblyopia –Surgical repair of lid colobomas if exposure is present. Prognosis: Prognosis: –Goldenhar syndrome exhibits extreme variability. –Prognosis is variable and depends on the presence and severity of associated cardiovascular, neurological and other complications. –The prognosis for most children with Goldenhar syndrome is good, most will have a normal life span.

Case Report: Case Report: –Described the case of a 34-week-old fetus diagnosed prenatally with OAV/Goldenhar Syndrome and associated complex congenital heart defects. –Postnatal assessment of the infant confirmed the prenatal diagnosis.

References 1. Martelli-Junior H, Miranda RT, Fernandes CM, et al; Goldenhar syndrome: clinical features with orofacial emphasis. J Appl Oral Sci Dec;18(6): Hemifacial Microsomia, Online Mendelian Inheritance in Man (OMIM) 3. Engiz O, Balci S, Unsal M, et al; 31 cases with oculoauriculovertebral dysplasia (Goldenhar syndrome): clinical, Genet Couns. 2007;18(3): Morrison PJ, Mulholland HC, Craig BG, et al; Cardiovascular abnormalities in the oculo-auriculo-vertebral spectrum (Goldenhar syndrome). Am J Med Genet Nov 1;44(4): Rosa RF, Graziadio C, Lenhardt R, et al; Central nervous system abnormalities in patients with oculo-auriculo-vertebral Arq Neuropsiquiatr Feb;68(1): Touliatou V, Fryssira H, Mavrou A, et al; Clinical manifestations in 17 Greek patients with Goldenhar syndrome. Genet Couns. 2006;17(3): Touliatou V, Fryssira H, Mavrou A, et al; Clinical manifestations in 17 Greek patients with Goldenhar syndrome. Genet Couns. 2006;17(3): Touliatou V, Fryssira H, Mavrou A, et al; Clinical manifestations in 17 Greek patients with Goldenhar syndrome. Genet Couns. 2006;17(3): Graff JM, Bhola R, Olson RJ: Goldenhar Syndrome (Oculo-Auriculo-Vertebral Spectrum): 6 day-old male with limbal dermoids. Eyerounds.org. March 31, Tasse C, Hohringer S, Fisher S, Ludecke HJ, Albrecht B, et al. Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification. Eur J Med Genet. 2005;48(4): Tasse C, Hohringer S, Fisher S, Ludecke HJ, Albrecht B, et al. Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification. Eur J Med Genet. 2005;48(4): Tasse C, Hohringer S, Fisher S, Ludecke HJ, Albrecht B, et al. Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification. Eur J Med Genet. 2005;48(4):

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