Goldenhar Sendromu ve Intrakardiyak Anevrizması Olan Bir Olgu
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P: 90-92
Haziran 2011

Goldenhar Sendromu ve Intrakardiyak Anevrizması Olan Bir Olgu

Med Bull Haseki 2011;49(2):90-92
1. Department Of Medical Genetics, Erzurum Nenehatun Obstetrics And Gynecology Hospital, Erzurum, Turkey
2. Neonatal Intensive Care Unit, Erzurum Nenehatun Obstetrics And Gynecology Hospital, Erzurum, Turkey
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ÖZET

Goldenhar sendromu kulak, kalp ve vertebra anomalileri, fasiyal asimetri ve mandibula hipoplazisi ile karakterize okülo-aurikulo-vertebral displazinin nadir bir varyantıdır. Goldenhar sendromunun etyolojisi hala belirsizliğini korumaktadır. Burada, intrakardiyak anevrizması ve Goldenhar sendromu olan 5 günlük dişi bir olguyu sunduk.

References

1Goldenhar M. Associations malformatives de l’oneil et de l’oreille, en particulier le syndrome epibulbaire-appendices auriculaires dermoide fistula auris congenita et ses relatons avec la dysostose mandibulo faciale. J Genet Hum 1952;1:243-82.
2Gorlin RJ, Pindborg JJ. Oculoauriculo-Vertebral Dysplasia. In: Syndromes of The Head and Neck. New York: McGraw-Hill; 1964. p. 546-52.
3Grabb WC. The first and second brachial  arch syndromes. Plast Reconstr Surg  1965;36:485-508.
4Castori M, Brancati  F, Rinaldi  R et al. Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS). Am J Med Genet  2006;140:1573-79.
5Cohen MM Jr, Rollinck BR, Kaye CI. Oculoauriculovertebral spectrum: an up dated critique. Cleft  Palate J 1989;26:276-86.
6Stromland K, Miller M, Sjögreen L, Johansson M, Joelsson BME, Billstedt E. Oculo-auriculo-vertebral spectrum: associated anomalies, functional deficits and possible developmental risk factors. Am  J Med Genet 2007;143:1317-25.
7Hunt JA, Hobar PC. Common craniofacial anomalies: the facial dysostoses. Plast Reconstr  Surg   2002;110:1714-25.
8Gorlin RL. Branchial Arch and Oro-acral Disorders. In: Syndromes of The Head and Neck. Gorlin JJ, Cohen Jr MM, Hennekam RC (ed). London: Oxford University Press;  2001. p. 790-97.
9Pierpont MEM, Moller JH, Gorlin RJ et al. Congenital cardiac, pulmonary, and vascular malformations in oculoauriculovertebral dysplasia. Pediatr Cardiol1982;2:297–302.
10Burck U. Genetic aspects of hemifacial microsomia. Hum  Genet 1983;64:291-96.
11Jones KL. Oculo-Auriculo-Vertebral Spectrum. In:Smith's Recognizable Patterns of Human Malformation. 6th ed. Philadelphia:  Elsevier Saunders;  2006. p. 738-41.
12Kokavec R.  Goldenhar’s  syndrome with various clinical manifestations. Cleft Palate Craniofac J 2006;43:628-34.
13Soltan HC, Holmes LB. Familial occurrence of malformations possibly attributable to vascular abnormalities. J  Pediatr 1986;108:112-14.
14Schrander-Stumpel CT, de Die-Smuiders CE, et al. Oculo-auric¬ulo-vertebral spectrum and cerebral anomalies. J Med Genet  1992;29:326-31.
15Tasse C, Böhringer S, Fischer 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.
16Greenwood RD, Rosental A, Sommer A, et al Cardiovascular malformations in oculoauriculovertebral dysplasia (Goldenhar syndrome). J Pediatr 1974;85:816–8. [Özet]
17Kumar A, Friedman JM, Taylor GP, et al. Pattern of cardiac malformation in oculoauriculovertebral spectrum. Am J  Med  Genet  1993;46:423-6.
18Rollnick BR, Kaye CI, Nagatoshi K, et al. Oculoauriculovertebral dysplasia and variants: Phenotypic characteristics of 294 patients. Am J Med Genet 1987;26:361-75.
19Greenwood RD, Rosenthal A, Sommer A, et al.  Cardiovascular malformations in oculoauriculovertebral dysplasia (Goldenhar syndrome). J Pediatr 1974;85:816-18.
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