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Goldenhar syndrome- A case report

Yıl 2015, Cilt: 5 Sayı: 3, 211 - 214, 01.10.2015

Öz

Goldenhar syndrome is a birth defect resulting from the maldevelopment of the first two branchial arches with the incomplete development of the ear, nose, soft palate, lip and mandible. Goldenhar syndrome is a rare inherited condition, which has a multifactorial ethiopathology that includes nutritional and environmental factors which can result in developmental disturbances. Goldenhar first described this condition in 1952 as a disease that presents a combination of several anomalies such as microtia, hemifacial microsomia, pre-auricular skin tags, epibulbar dermoids, and vertebral malformations. In this case report we report a case of 30 year old male patient with a mild variant of Goldenhar syndrome with review of literature.

Kaynakça

  • Gharehbaghi MM, Ghaemi M-R. Goldenhar Syndrome in an Infant of Diabetic Mother. Iran J Pediatr. 2010 r; 20(1): 131-134.
  • Saxena R, David MP. Goldenhar syndrome - A rare case report. J Genet Syndr Gene Ther. 2012; 3: 2.
  • Vinay C, Reddy RS, Uloopi KS, Madhuri V, Sekhar RC. Craniofacial features in Goldenhar syndrome. J Indian Soc Pedod Prev Dent. 2009; 27(2): 121-124.
  • Kokavec R. Goldenhar syndrome with various clinical manifestations. Cleft Palate Craniofac J. 2006; 43(5): 628-634.
  • Mahore A, Dange N, Nama S, Goel A. Facio-auriculo-vertebro- cephalic spectrum of Goldenhar syndrome. Neurol India. 2010; 58: 141-144.
  • Maan MA, Saeed G, Akhtar SJ, Iqbal J. Goldenhar syndrome: case reports with review of literature. J Pakistan Ass Dermatol 2008; 18: 53-55.
  • Bielicka B, Nêcka A, Andrych M. Interdisciplinary treatment of patients with Goldenhar syndrome - Clinical Reports. Dent Med Probl. 2006; 43: 458-462.
  • Nakajima H, Goto G Tanaka N, Ashiya H, Ibukiyama C. Goldenhar Syndrome associated with various cardiovascular malformations. Jpn Circ J. 1998; 62: 617-620.
  • Bisdas S, Lenarz M, Lenarz T, Becker H. Inner ear abnormalities in patients with Goldenhar syndrome. Otol Neurotol. 2005; 26(3): 398- 404.
  • Pinheiro AL, Araujo LC, Oliveira SB, Sampaio MC, Freitas AC. Goldenhar’s syndrome--case report. Braz Dent J. 2003; 14(1): 67-70.
  • Berker N, Acaroglu G, Soykan E. Goldenhar’s Syndrome (oculo- auriculo- vertebral dysplasia) with congenital facial nerve palsy. Yonsei Med J. 2004; 45(1): 157-160.
  • Lima MD, Marques YM, Alves SM, Jr, Ortega KL, Soares MM, Magalhães MH. Distraction osteogenesis in Goldenhar Syndrome: case report and 8-year follow-up. Med Oral Patol Oral Cir Bucal. 2007; 12: E528-E531.
  • Tasse C, Böhringer S, Fischer S, Lüdecke HJ, Albrecht B, Horn D, et al. Oculo Auriculo vertebral spectrum (OAVS): Clinical evaluation and Severity scoring of 53 patints and proposal for a new classification. Eur J Med Genet. 2005; 48: 397-411.
  • Kannur A, Talpallikak N, Chavan P. Goldenhar syndrome-a case report. National Journal of Medical and Allied Sciences. 2013; 2(2): 32-35.

Goldenhar sendromu- Bir olgu raporu

Yıl 2015, Cilt: 5 Sayı: 3, 211 - 214, 01.10.2015

Öz

Goldenhar Sendromu, ilk iki brankiyal yarığın gelişim bozukluğu sonucunda oluşan, gelişimi tamamlanmamış kulak, burun, yumuşak damak, dudak ve mandibula ile karakterize doğumsal bir hastalıktır. Gelişim bozukluklarına neden olan Goldenhar Sendromu, beslenme ve çevresel faktörleri içeren çok bileşenli etyopatolojiye sahip nadir görülen kalıtımsal bir hastalıktır. Goldenhar bu durumu ilk defa 1952’de mikroti, hemifasiyal mikrozomi, kulak önünde akrokordon, epibulber dermoid ve vertebral malformasyonlar gibi çeşitli anomalilerin kombinasyonunu gösteren bir hastalık olarak tanımlamıştır. Bu olgu sunumunda hafif Goldehar Sendromu varyantı olan 30 yaşında erkek hastanın durumunu ilgili literatür özeti ile beraber bildirmekteyiz.

Kaynakça

  • Gharehbaghi MM, Ghaemi M-R. Goldenhar Syndrome in an Infant of Diabetic Mother. Iran J Pediatr. 2010 r; 20(1): 131-134.
  • Saxena R, David MP. Goldenhar syndrome - A rare case report. J Genet Syndr Gene Ther. 2012; 3: 2.
  • Vinay C, Reddy RS, Uloopi KS, Madhuri V, Sekhar RC. Craniofacial features in Goldenhar syndrome. J Indian Soc Pedod Prev Dent. 2009; 27(2): 121-124.
  • Kokavec R. Goldenhar syndrome with various clinical manifestations. Cleft Palate Craniofac J. 2006; 43(5): 628-634.
  • Mahore A, Dange N, Nama S, Goel A. Facio-auriculo-vertebro- cephalic spectrum of Goldenhar syndrome. Neurol India. 2010; 58: 141-144.
  • Maan MA, Saeed G, Akhtar SJ, Iqbal J. Goldenhar syndrome: case reports with review of literature. J Pakistan Ass Dermatol 2008; 18: 53-55.
  • Bielicka B, Nêcka A, Andrych M. Interdisciplinary treatment of patients with Goldenhar syndrome - Clinical Reports. Dent Med Probl. 2006; 43: 458-462.
  • Nakajima H, Goto G Tanaka N, Ashiya H, Ibukiyama C. Goldenhar Syndrome associated with various cardiovascular malformations. Jpn Circ J. 1998; 62: 617-620.
  • Bisdas S, Lenarz M, Lenarz T, Becker H. Inner ear abnormalities in patients with Goldenhar syndrome. Otol Neurotol. 2005; 26(3): 398- 404.
  • Pinheiro AL, Araujo LC, Oliveira SB, Sampaio MC, Freitas AC. Goldenhar’s syndrome--case report. Braz Dent J. 2003; 14(1): 67-70.
  • Berker N, Acaroglu G, Soykan E. Goldenhar’s Syndrome (oculo- auriculo- vertebral dysplasia) with congenital facial nerve palsy. Yonsei Med J. 2004; 45(1): 157-160.
  • Lima MD, Marques YM, Alves SM, Jr, Ortega KL, Soares MM, Magalhães MH. Distraction osteogenesis in Goldenhar Syndrome: case report and 8-year follow-up. Med Oral Patol Oral Cir Bucal. 2007; 12: E528-E531.
  • Tasse C, Böhringer S, Fischer S, Lüdecke HJ, Albrecht B, Horn D, et al. Oculo Auriculo vertebral spectrum (OAVS): Clinical evaluation and Severity scoring of 53 patints and proposal for a new classification. Eur J Med Genet. 2005; 48: 397-411.
  • Kannur A, Talpallikak N, Chavan P. Goldenhar syndrome-a case report. National Journal of Medical and Allied Sciences. 2013; 2(2): 32-35.
Toplam 14 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm Articles
Yazarlar

Renita Lorina Castelino

Subhas Babu Bu kişi benim

Fazil Ka Bu kişi benim

Preethi Balan Bu kişi benim

Anusha Rangare Laxmana Bu kişi benim

Harish Shetty Bu kişi benim

Yayımlanma Tarihi 1 Ekim 2015
Gönderilme Tarihi 1 Ekim 2015
Yayımlandığı Sayı Yıl 2015 Cilt: 5 Sayı: 3

Kaynak Göster

APA Lorina Castelino, R., Babu, S., Ka, F., Balan, P., vd. (2015). Goldenhar sendromu- Bir olgu raporu. Clinical and Experimental Health Sciences, 5(3), 211-214. https://doi.org/10.5455/musbed.20150604062309
AMA Lorina Castelino R, Babu S, Ka F, Balan P, Rangare Laxmana A, Shetty H. Goldenhar sendromu- Bir olgu raporu. Clinical and Experimental Health Sciences. Ekim 2015;5(3):211-214. doi:10.5455/musbed.20150604062309
Chicago Lorina Castelino, Renita, Subhas Babu, Fazil Ka, Preethi Balan, Anusha Rangare Laxmana, ve Harish Shetty. “Goldenhar Sendromu- Bir Olgu Raporu”. Clinical and Experimental Health Sciences 5, sy. 3 (Ekim 2015): 211-14. https://doi.org/10.5455/musbed.20150604062309.
EndNote Lorina Castelino R, Babu S, Ka F, Balan P, Rangare Laxmana A, Shetty H (01 Ekim 2015) Goldenhar sendromu- Bir olgu raporu. Clinical and Experimental Health Sciences 5 3 211–214.
IEEE R. Lorina Castelino, S. Babu, F. Ka, P. Balan, A. Rangare Laxmana, ve H. Shetty, “Goldenhar sendromu- Bir olgu raporu”, Clinical and Experimental Health Sciences, c. 5, sy. 3, ss. 211–214, 2015, doi: 10.5455/musbed.20150604062309.
ISNAD Lorina Castelino, Renita vd. “Goldenhar Sendromu- Bir Olgu Raporu”. Clinical and Experimental Health Sciences 5/3 (Ekim 2015), 211-214. https://doi.org/10.5455/musbed.20150604062309.
JAMA Lorina Castelino R, Babu S, Ka F, Balan P, Rangare Laxmana A, Shetty H. Goldenhar sendromu- Bir olgu raporu. Clinical and Experimental Health Sciences. 2015;5:211–214.
MLA Lorina Castelino, Renita vd. “Goldenhar Sendromu- Bir Olgu Raporu”. Clinical and Experimental Health Sciences, c. 5, sy. 3, 2015, ss. 211-4, doi:10.5455/musbed.20150604062309.
Vancouver Lorina Castelino R, Babu S, Ka F, Balan P, Rangare Laxmana A, Shetty H. Goldenhar sendromu- Bir olgu raporu. Clinical and Experimental Health Sciences. 2015;5(3):211-4.

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