2007, Número 4
Síndrome de Goldenhar: Reporte de un caso
Kershenovich SR, Garrido GLM, Burak KA
Idioma: Español
Referencias bibliográficas: 24
Paginas: 214-220
Archivo PDF: 597.17 Kb.
RESUMEN
El síndrome de Goldenhar es la segunda malformación craneofacial más frecuente; de presentación esporádica o como herencia autosómico-dominante involucra los derivados del primer y segundo arco branquial. Sus características principales son las afecciones oculares, auriculares (oído y pabellón auricular) y vertebrales, de ahí su seudónimo espectro óculo-aurículo-vertebral (OAVS). Presentamos el caso de un neonato producto de una madre de 38 años de edad sin antecedentes, con características clínicas sugerentes de este síndrome.
REFERENCIAS (EN ESTE ARTÍCULO)
Gorlin RJ, Jue KL, Jacobsen V, Goldschmidt E. Oculoauriculovertebral dysplasia. J Pediat 1963; 63: 991-999.
Gorlin RJ. Branchial arch and oro-acral disorders. In: Gorlin JJ, Cohen MM, Jr, Levin LS (eds.): Syndromes of the Head and Neck. 3rd ed. London: Oxford Univ. Press 1990: 641-649.
Chen H. Goldenhar syndrome. In: Chen H. Atlas of Genetic Diagnosis and Counseling. 1st ed. Totowa, New Jersey: Humana Press 2006: 465-468.
Rollnick BR et al. Oculoauriculovertebral dysplasia and variants: Phenotypic characteristics of 294 patients. Am J Med Genet 1987; 26: 361-375.
Regenbogen L, Godel V, Goya, Goodman RM. Further evidence for an autosomal dominant form of oculoauriculovertebral dysplasia. Clin Genet 1982; 21: 161-167.
Cohen MM Jr. Variability versus «incidental findings» in the first and second branchial arch syndrome: Unilateral variants with anophthalmia. Birth Defects 1971; 7(7): 103-108.
Gorlin RJ. Branchial arch and oro-acral disorders. In: Gorlin JJ, Cohen MM Jr, Hennekam RCM. (eds.): Syndromes of the Head and Neck. 4th ed. London: Oxford Univ. Press 2001: 790-798.
Lyons KJ. Oculo-auriculo-vertebral spectrum. In: Lyons KJ (eds): Smith’s Recognizable Patterns of Human Malformation. 5th ed. Philadelphia: W. B. Saunders Company 1997: 642-645.
Gorlin RJ. Oculo-auriculo-vertebral spectrum. In: Cassidy SB, Allanson JE (eds): Management of genetic syndromes. 1st ed. Canada: Wiley-Liss, Inc. 2001: 269-279.
Robinson L et al. The vascular pathogenesis of unilateral craniofacial defects. J Pediatr 1987; 111: 236-239.
Ryan CA, Finer NN, Ives E. Discordance of signs in monozygotic twins concordant for the Goldenhar anomaly. Am J Med Genet 1988; 29: 755-761.
Soltan HC, Holmes LB. Familial occurrence of malformations possibly attributable to vascular abnormalities. J Pediatr 1986; 108: 112-114.
Fischer S et al. Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum. Hum Mol Genet 2006; 15(4): 581-587.
Van Meter TD, Weaver DD. Oculo-auriculo-vertebral spectrum and the CHARGE association: Clinical evidence for a common pathogenetic mechanism. Clin Dysmorph 1996; 5: 187-196.
Kobrynski L et al. Trisomy 22 and facioauriculovertebral (Goldenhar) sequence. Am J Med Genet 1993; 46: 68-71.
Wang R, Martinez-Frias 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: 611-617.
Lammer ES et al. Retinoic acid embryopathy. N Engl J Med 1985; 313(14): 837-841.
Rosenal TH. Aplasia-hypoplasia of the otic labyrinth after thalidomide. Acta Radiol 1965; 3: 225-236.
Gastavson EE, Chen H. Goldenhar syndrome, anterior encephalocele, and aqueduct stenosis following fetal primidone exposure. Teratology 1985; 32: 13-17.
Lessick M, Vasa R, Israel J. Severe manifestations of oculoauriculovertebral spectrum in cocaine exposed infant. J Med Genet 1991; 28: 803-804.
Castori M et al. Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS). Am J Med Genet 2006; 140A: 1573-1579.
Nyberg DA, Mc Gahan JP, Pretorious DH, Pilu G. Syndromes and multiple anomaly conditions. In: Nyberg DA, Mc Gahan JP, Pretorious DH, Pilu G (eds): Diagnostic imaging of fetal anomalies. 1st ed. Philadelphia: Lippincott Williams & Wilkins, 2003: 153-155.
Tasse C, Majewski F, Böringer S, Fisher S, Ludecke HJ, Gillesen-Kaesbach G, Wieczorek D. A family with autosomal dominant oculo-auriculo-vertebral spectrum. Clin Dysmorphol 2007; 16: 1-7.
Tasse C, Böhringer S, Fisher S et al. Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification. Eur J Med Genet 2005; 48: 397-411.