grand rounds goldenhar syndrome mark a ihnen, m.d. university of louisville school of medicine...
TRANSCRIPT
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Grand Rounds
Goldenhar Syndrome
Mark A Ihnen, M.D.University of Louisville School of Medicine
Department of Ophthalmology & Visual Sciences6/20/2014
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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.
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Exam
4→3
BCVA P Tdig
BTL
BTL 4→3
No APD
soft
soft
EOM: Grossly Full OU
DFE: WNL OU
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Clinical Photograph
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Clinical Photograph
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Clinical Photograph
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External Exam Photo: OD
Clinical photo demonstrating two (temporal and inferior) limbal dermoids.
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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
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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)
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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.
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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
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Clinical Course
Discharged home after an extended three month hospitalization.
2 weeks later, patient expired secondary to cardiopulmonary arrest at home.
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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)
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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
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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.
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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.
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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.
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Thank you.