Goldenhar Syndrome (Oculo-Auriculo-Vertebral Spectrum):

Case Report:


Chief Complaint:
6 day-old male patient is referred for evaluation of "fleshy masses" on the lateral aspect of both corneas.

History of Present Illness:
The patient was born at 36 weeks gestation and was delivered by normal spontaneous vaginal delivery (NSVD). He had mild neonatal jaundice that did not require treatment and was improving. Shortly after delivery, he was noted to have bilateral "fleshy masses" on the corneas and an irregular right upper eyelid. This prompted initial referral to the University of Iowa Hospitals and Clinics Pediatric Ophthalmology division for evaluation.

(This patient was first seen here in June of 2002 and has been followed and cared for since that time. The description of his initial presentation is here provided and his course of care is described in the Course section of this case presentation).
Past Ocular History:
This was the patient's first presentation for eye care.

Past Medical History:
Normal delivery at 36 weeks gestation to a 26 year-old mother in her fourth pregnancy whose first three pregnancies were lost to spontaneous abortion (G4 P1 SAB3). The patient had mild neonatal jaundice not requiring treatment. No other medical issues noted to date and infancy has been otherwise normal with achievement developmental milestones.
Medications: None

Family History:
Noncontributory. No family history of facial syndromes or ocular conditions.
Social

History:
Newborn infant lives at home with his parents.

Newborn Ocular Exam:

•Visual Acuity: Too young for formal assesment. Winces to light, both eyes (OU).

•Motility: Full motility is evident, OU

•Pupils: Equally reactive, OU

•External and anterior segment examination (photo from 10 months of age is provided as Figure 1):
◦Eyelid coloboma on the right upper lid (cornea is completely covered with lid closure)

-----◦Preauricular skin tag anterior to right ear (see Figure 2C) and a very small skin tag on the right cheek -there was no microtia of the ear itself

-----◦Limbal dermoids temporally, OU, not in the visual axis

•Dilated fundus exam (DFE): No pallor or edema of either disc. Normal posterior fundus, OU.

Figure 1 External image taken at 10 months of age demonstrates bilateral limbal dermoids at the temporal limbus of both eyes, (OD > OS). The black arrow indicates the site of right upper eyelid coloboma.


Course: The constellation of bilateral limbal dermoids, eyelid coloboma, and preauricular skin tags was consistent with a diagnosis of Goldenhar syndrome. The limbal dermoids did not obstruct the visual axis and the right upper eyelid coloboma did not prevent corneal protection with lid closure. As such, the patient's ocular condition did not require urgent intervention in the first weeks of life. We invited the involvement of the Medical Genetics team to evaluate the patient and aid in additional work-up for more serious malformations that can occur in the oculo-auriculo-vertebral spectrum. The patient was scheduled to return to our clinic within 1-2 months and to be followed closely for any change in visual cues or refraction during the ensuing months.

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Evaluation & Treatment

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