Syndrome

Jonathan H. Salvin


BASICS


DESCRIPTION


• Goldenhar syndrome is part of the oculoauriculovertebral spectrum (OAVS).


• Characterized by epibulbar choristomas, preauricular appendages, vertebral anomalies, and hemifacial microsomia (1)[C].


EPIDEMIOLOGY


Incidence


• 1 in 3500 to 5600 births (2)[C]


• Male predominance (3:2)


Prevalence


Unknown.


RISK FACTORS


None definitively identified.


Genetics


• Most cases are sporadic.


• Autosomal dominant (often bilateral auricular involvement) and autosomal recessive have been reported (3)[C].


• Chromosomal aberrations have been reported including chromosome 5p terminal deletion and del22q11.2 (4)[C].


• At least 4 specific loci and 1 identified gene, SALL1 gene (16q12.1).


PATHOPHYSIOLOGY


Congenital disorder; see Etiology section.


ETIOLOGY


• Impaired migration of neural crest cells resulting in anomalies of 1st and 2nd branchial arches (5)[C].


• Ocular manifestations second to anomalous formation of first branchial arch, maxillary division (2)[C].


COMMONLY ASSOCIATED CONDITIONS


• Hemifacial microsomia (1)[C].


• Cardiovascular, nervous, musculoskeletal, and urogenital abnormalities.


• Nasal abnormalities.


• Hearing loss/deafness.


• Torticollis due to vertebral anomalies.


DIAGNOSIS


HISTORY


Family history.


PHYSICAL EXAM


• Full ocular examination


– Limbal, ipsilateral, inferotemporal epibulbar dermoid (most frequent ocular sign); may have protruding cilia and induced astigmatism (2)[C].


– Lipodermoid typically found temporally (2)[C].


– Assess for ocular motility disorders, especially Duane syndrome (1)[C].


– Examine for other signs: Upper eyelid coloboma with possible adhesion to the globe, blepharoptosis/shortening of palpebral fissure (uncommon), lacrimal drainage system anomalies (1)[C].


– Evaluate for corneal anesthesia, decreased tear production, neuroparalytic corneal ulcers (uncommon) (6)[C].


– Assessment of visual function as induced astigmatism can frequently cause amblyopia (2)[C].


– Facial examination for preauricular appendages, hemifacial asymmetry, and microtia (1)[C].


– Microphthalmia with or without hypoplasia of optic nerve and macula (uncommon) (5)[C].


– Caruncle may be absent or ectopic.


• Full systemic exam for other associated findings.


DIAGNOSTIC TESTS & INTERPRETATION


Lab


• None, if no other systemic findings.


• Appropriate laboratory testing if genitourinary involvement.


Imaging


Initial approach

• Neurologic and facial imaging as indicated.


• Cervical spine imaging.


Follow-up & special considerations

Monitor for amblyopia.


Diagnostic Procedures/Other


• Audiology evaluation


• Genetics consultation


• Renal ultrasound as indicated


Pathological Findings


Epibulbar dermoids consist of collagenous connective tissue covered by conjunctival or corneal epithelium with possible epidermal appendages.


DIFFERENTIAL DIAGNOSIS


• Treacher–Collins syndrome


• Pierre Robin syndrome


• Cervico-oculo-acusticus syndrome


• Town–Brocks syndrome


• Oculoectodermal syndrome


TREATMENT


MEDICATION


None for the primary disorder but may need for secondary complications.


ADDITIONAL TREATMENT


General Measures


Amblyopia treatment as indicated.


Issues for Referral


• Craniofacial/plastic surgery evaluation for cosmetic repair.


• Otolaryngology evaluation for external ear and audiology testing.


• Genetics for diagnosis, testing, and counseling.


SURGERY/OTHER PROCEDURES


• Surgical excision of limbal dermoid indicated for cosmetic reconstruction, presence of symptoms (redness, foreign body sensation), induced astigmatism causing amblyopia, secondary corneal complications (1)[C].


• Excision of lipodermoid with caution due to extraocular muscle involvement.


• Eyelid repair


• Craniofacial/plastic surgery for facial malformations


IN-PATIENT CONSIDERATIONS


Initial Stabilization

In-patient care only required for nonocular associations.


ONGOING CARE


FOLLOW-UP RECOMMENDATIONS


• As needed for secondary complications.


• Monitor for amblyopia, full refractive correction and symptoms requiring excision of limbal dermoid.


PATIENT EDUCATION


• Genetic counseling


• Appropriate educational services for hearing impairment


• Goldenhar Syndrome Support Network Society, barbmiles.tripod.com/


• Goldenhar Family Support Group (UK), www.goldenhar.org.uk/


• AboutFace, www.aboutfaceinternational.org/


PROGNOSIS


Ocular prognosis is good if amblyopia treated.


COMPLICATIONS


• Corneal dellen, exposure or ulcer


• Amblyopia



REFERENCES


1. Mansour AM, Wang F, Henkind P, Goldberg R, Shprintzen R. Ocular findings in the facioauri-culovertebral sequence (Goldenhar-Gorlin Syndrome). Am J Opthalmol 1985;100(4):555–559.


2. Caca I, Unlu K, Ari S. Two cases of goldenhar syndrome. J Pediatr Opthalmol Strabismus 2006;43:107–109.


3. Vendramini-Pittoli S, Kokitsu-Nakata NM. Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature. Clin Dysmorphol 2009;18(2):67–77.


4. Ala-Mello S, Siggberg L, Knuutila S, Von Koskull H, Taskinen M, Peippo M. Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly. Am J Med Genet 2008;146A:2490–2494.


5. Margolis S, Aleksic S, Charles N, McCarthy J, Greco A, Budzilovich G. Retinal and optic nerve findings in Goldenhar-Gorlin Syndrome. Ophthalmology 1984;91(11):1327–1333.


6. Baum JL, Feingold M. Ocular aspects of Goldenhar’s syndrome. Am J Ophthalmol 1973;75(2):250–257.

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Nov 9, 2016 | Posted by in OPHTHALMOLOGY | Comments Off on Syndrome

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