Goldenhar syndrome: A rare case report

Abstract

Goldenhar Syndrome or oculoauriculovertebral spectrum is a complex syndrome characterized by an association of maxillomandibular hypoplasia, deformity of the ear, ocular dermoid and vertebral anomalies and the most severe form of hemifacial microsomia. Here, we describe a 26-year-old male patient with unilateral hemifacial microsomia, preauricular ear tags, macrosomia on the right side of the face.

In the Shadows of Rarity: A Case Report of Syndromic Cleft Lip and Palate!

“…Principal characteristics of this syndrome are cleft lip and/or palate, rib anomalies, polydactyly or clinodactyly of hands and feet, congenital heart disease, mental retardation, and growth hormone deficiencies. Certain principle features were seen in this case; however, some other features were not seen which may be due to the young age and a lack in the investigation that had been done [ 13 ].…”

Goldenhar syndrome

“…Hemifacial microsomia arise from branchial arch defect where preauricular skin tags are ramnents of branchial cleft. 14 The etiopathogenesis of this Goldenhar syndrome is multifactorial, not yet fully established and involves genetic and environmental factors that cause disturbances in neural crest division, abnormal development of the first and second branchial arches during embryogenesis as well as occlusion of placental vessels.1 1,15,16 In terms of genetic association 5p deletions, 14q23.1 duplications, or abnormalities of chromosomes 18 and 22 were observed. Families with autosomal dominant inheritance (1-2%) have shown segregation of chromosome 14q23.1 duplication inclusive of the OTX2 gene.…”

Síndrome de Goldenhar y microsomía hemifacial. Revisión de la literatura

“…Además, los defectos estructurales afectaron dos o tres veces más frecuentemente a los gemelos monocigóticos. Algunos investigadores señalan una mayor recurrencia de SG en embarazadas por fertilización in vitro 2,6,7 .…”

“…Como el espectro fenotípico es tan variable, el tratamiento debe tener un enfoque individual en todos los niveles y multidisciplinario. Comienza tempranamente, pero con el paso del tiempo se pueden ir observando nuevos signos en distintas partes del cuerpo y las anomalías diagnosticadas previamente se vuelven más severas debido principalmente al retraso del crecimiento 6,7,19 .…”