Goldenhar Syndrome - ophthalmologist's perspective

Abstract

Goldenhar syndrome (oculo-auriculo-vertebral dysplasia, OAVS) is a rare, congenital disease arising from the abnormal development of the first and second branchial arches.The incidence is between 1:3500 and 1:5600, with a male: female ratio of 3:2. The etiopathogenesis is multifactorial and dependent on genetic and environmental factors but there are still many unknown aspects.The classic features of Goldenhar syndrome include ocular anomalies - epibulbar dermoids, microphthalmia and coloboma, ENT features such as preauricular tragi, hearing loss, low implantation of the auricular pavilion, micrognathia, and vertebral anomalies such as scoliosis or hemivertebrae. The abnormalities are unilateral in 85% of the cases. Ocular features, especially bilateral dermoids are seen in 60% of the cases.The treatment varies with age and systemic associations, from mainly cosmetic, in uncomplicated cases, to complex reconstructive surgeries in severe cases. While the oculoplastic surgeon manages the oculo-palpebral defects, severe forms require a multidisciplinary approach. Treatment should be individualized, adapted to age, as well as to the extent and severity of the disease. The paper is based on the editorial team cases and experience.

Multicorrection Goldenhar syndrome (facio-auriculo-vertebral dysplasia): a rare follow up case of 12 years old female

“…Unilateral facial hypoplasia occurs as a facial defect. The most common eye abnormalities include upper eyelid colobomas, subconjunctival dermoids, and epibulbar choristoma [ 10 ]. Anomalies of the ears include preauricular skin tags or blind fistulas with aplasia and external auditory meatal Artesia.…”

Benigne und maligne Bindehauttumoren in Diagnostik und Therapie

“…Beim Goldenhar-Syndrom kommt eine okuläre Beteiligung bei 60 % der Patienten vor, typischerweise mit bilateralen epibulbären Dermoiden, die ansonsten einseitig auftreten [15].…”

Craniofacial microsomia: Reflections on diagnosis and severity assessment based on a series of cases

“…Among 50 patients tested, the karyotype analysis showed chromosomal alterations in three: patient P25: 47,XXY[50]; patients P37 and P40: 47,XX,+mar [20]). Two patients had balanced karyotypes: P10 (46,XY,inv(9)(p12q13) [20]), and P34 (46,XX,t(7;8)(q35;q23) [20]). A comparison between non-syndromic and syndromic cases is shown in Table 3.…”

“…Craniofacial involvement is usually asymmetric and alterations range from mild to severe, in assorted combinations. 2,3,15,[17][18][19][20][21] In about 35% to 70% of the cases, other anatomic regions are affected, such as central nervous, cardiovascular, skeletal, genitourinary, respiratory, and gastrointestinal systems, in which a myriad of major and minor anomalies might be seen. 5,4 Efforts have been made in order to develop systems for standard description, categorization, and assessment of the severity of CFM anomalies.…”