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Revista Cubana de Oftalmología

versión impresa ISSN 0864-2176versión On-line ISSN 1561-3070

Resumen

DE LA BARCA LLEONART, Marina; PAZ SARDUY, Adalberto; OCANA GIL, María Antonia  y  ATIENZA LOIS, Leonardo. Oculoauriculovertebral displasia or Goldehar syndrome: Multidisciplinary study of a clinical case. Rev Cubana Oftalmol [online]. 2001, vol.14, n.1. ISSN 0864-2176.

We present a clinical case of oculoauriculovertebral displasia or Goldenhar syndrome in a 26-year-old female patient with multiple congenital abnormalities, branchial cyst and primary open-angle glaucoma. A multidisciplinary, clinical, genetic and imaging study is made in conjunction with psycophysical tests that show that the patient suffers from diverse craniofacial and osteal abnormalities and from abnormalities of the thoraco-abdominal viscera. The different deformities that are part at present of a wide spectrum of abnormalities, according to the literature reviewed by us, as well as the clinical characteristics, treatment and evolution are stressed. The branchial cyst is a novel finding that may be well explained in this type of morphogenetic alterations; however, glaucoma seems to be a causal entity. Other eye abnormalities inherent to Goldenhar syndrome that may cause glaucoma are discarded. Comments are made on the diagnosis and multidisciplinary treatment and on the surgical risk of these patients.

Palabras clave : GOLDENHAR SYNDROME; GOLDENHAR SYNDROME; GLAUCOMA, OPEN-ANGLE; BRANCHIOMA; ABNORMALITIES, MULTIPLE; EYE MANIFESTATIONS.

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