Goldenhar Syndrome. Case report
Goldenhar syndrome is the second most common craniofacial malformation; it ca be sporadic presentation or as autosomal-dominant inheritance, it involves the organs derived from the first and second branchial arches. Its main characteristics are ocu
Goldenhar M. Associations malformatives de l'oeil et de l' oreille. J Genet Hum. 1952;1:243-82.
Hollwich F, Verbeck B. Oculo-auricular dysplasia (Franceshetti-Goldenhar syndrome). Klin Monbl Augenheilkd. 1969;154:430-43.
Ballesta-Martínez MJ, López-González V, Dulcet LA, Rodríguez-Santiago B, Garcia-Miñaúr S, Guillen-Navarro E. Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication. Am J Med Genet A. 2013;161A:2030-5.
Setzer ES, Ruiz-Castaneda N, Severn C, Ryden S, Frias JL. Etiologic heterogeneity in the oculoauriculovertebral syndrome. J Pediatr. 1981;98:88-90.
Wang R, Martínez-Frías ML, Graham JM Jr. Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence: a case-based and case-control approach. J Pediatr. 2002;141:611-7.
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