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”

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
BTL
BCVA
BTL
P
4→3
No APD
EOM: Grossly Full OU
DFE: WNL OU
soft
Tdig
soft
Clinical Photograph
Clinical Photograph
Clinical Photograph
External Exam Photo: OD
Clinical photo demonstrating two (temporal and inferior) limbal dermoids.
Anterior Segment Findings
OD
External
L/L
Conj
K
AC
Iris
Lens
OS
Multiple dysmorphic features including bilateral
preauricular skin tags, high arched palate, right maxillary
and mandibular hypoplasia, and micrognathia
wnl
wnl
wnl
wnl
temporal and inferior
wnl
limbal dermoids
wnl
wnl
wnl
wnl
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-AuriculoVertebral 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.
References
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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
Hemifacial Microsomia, Online Mendelian Inheritance in Man (OMIM)
Engiz O, Balci S, Unsal M, et al; 31 cases with oculoauriculovertebral dysplasia
(Goldenhar syndrome): clinical, Genet Couns. 2007;18(3):277-88
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
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
Touliatou V, Fryssira H, Mavrou A, et al; Clinical manifestations in 17 Greek patients
with Goldenhar syndrome. Genet Couns. 2006;17(3):359-70
Graff JM, Bhola R, Olson RJ: Goldenhar Syndrome (Oculo-Auriculo-Vertebral
Spectrum): 6 day-old male with limbal dermoids. Eyerounds.org. March 31, 2006
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.