Grand Rounds

Goldenhar Syndrome

Mark A Ihnen, M.D.University of Louisville School of Medicine

Department of Ophthalmology & Visual Sciences6/20/2014

Presentation 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.

PMH: – Congenital heart disease: DORV, TGA, large VSD and

coarctation of aorta/hypoplastic aortic arch. – Multiple dysmorphic facial features.

POH: none Birth History:

– Gestational Age: 37 weeks, uncomplicated delivery.

Exam

4→3

BCVA P Tdig

BTL

BTL 4→3

No APD

soft

soft

EOM: Grossly Full OU

DFE: WNL OU

Clinical Photograph

Clinical Photograph

Clinical Photograph

External Exam Photo: OD

Clinical photo demonstrating two (temporal and inferior) limbal dermoids.

Anterior Segment FindingsOD OS

External Multiple dysmorphic features including bilateral preauricular skin tags, high arched palate, right maxillary and mandibular hypoplasia, and micrognathia

L/L wnl wnlConj wnl wnlK temporal and inferior wnl

limbal dermoids AC wnl wnlIris wnl wnlLens wnl wnl

Assessment

20 day-old male infant with multiple congenital cardiac defects, right-sided hemifacial hypoplasia, preauricular skin tags and limbal dermoids OD.

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:– 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.

2 weeks later, patient expired secondary to cardiopulmonary arrest at home.

Goldenhar Syndrome Background

– First described by Maurice Goldenhar, MD (1924-2001) in 1952.

– Also known as Oculo-Auriculo-Vertebral syndrome (OAV)– Defect in the development of the first and second branchial

arches.

Incidence:– Incidence is approximately 1 per 25-45,000 births.– Male to female ratio, 2:1.

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:– Limbal dermoids (most common)– Eyelid colobomas– Associated with Duane Syndrome– Micropthalmia

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. 2010 Dec;18(6):646

Goldenhar Syndrome: Treatment and Prognosis

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:– 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:– 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.

References1. Martelli-Junior H, Miranda RT, Fernandes CM, et al; Goldenhar syndrome:

clinical features with orofacial emphasis. J Appl Oral Sci. 2010 Dec;18(6):646

2. 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):277-884. Morrison PJ, Mulholland HC, Craig BG, et al; Cardiovascular abnormalities in

the oculo-auriculo-vertebral spectrum (Goldenhar syndrome). Am J Med Genet. 1992 Nov 1;44(4):425-8

5. Rosa RF, Graziadio C, Lenhardt R, et al; Central nervous system abnormalities in patients with oculo-auriculo-vertebral Arq Neuropsiquiatr. 2010 Feb;68(1):98-102

6. Touliatou V, Fryssira H, Mavrou A, et al; Clinical manifestations in 17 Greek patients with Goldenhar syndrome. Genet Couns. 2006;17(3):359-70

7. Graff JM, Bhola R, Olson RJ: Goldenhar Syndrome (Oculo-Auriculo-Vertebral Spectrum): 6 day-old male with limbal dermoids. Eyerounds.org. March 31, 2006

8. 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):397-411.

Thank you.