You are here

Home » Content

Yenidoğan Döneminde Tanımlanan Goldenhar Sendromu: Olgu sunumu

A Goldenhar Syndrome Described In Neonatal Period: Case Report

Journal Name:

  • Abant Tıp Dergisi

Publication Year:

  • 2012
DOI: 
http://dx.doi.org/10.5505/abantmedj.2012.54264

Key Words:

Keywords (Original Language):

Author NameUniversity of AuthorFaculty of Author
Abstract (2. Language): 
Oculo-aurikulo-vertebral syndrome also referred to as Goldenhar Syndrome is a rare condition described initially by Goldenhar in 1952. Goldenhar Syndrome is a wide spectrum of congenital anomalies that involves structures arising from the first and second branchial arches. The syndrome is characterized by anomalies of the ear, hemifacial microsomia, and defects of the vertebral column. The etiology of this rare syndrome is not understood completely and seems to be heterogeneous. Management of Goldenhar syndrome requires a multidisciplinary approach to provide most appropriate treatment. Here we report a newborn with Goldenhar Syndrome who presented all classical signs of this rare condition.
Bookmark/Search this post with
Abstract (Original Language): 
Goldenhar sendromu olarak da bilinen okülo-aurikulovertebral sendrom, ilk kez 1952 yılında Goldenhar tarafından tanımlanmıştır. Goldenhar sendromu birinci ve ikinci brankiyal yarıktan köken alan yapıların konjenital anomalilerini içerir. Kulak anomalileri, hemifasiyal mikrosomi ve vertebral anomaliler ile karakterizedir. Sendromun nedeni tam olarak bilinmemekle birlikte heterojen kaynaklı olduğu düşünülmektedir. Goldenhar sendromunun yönetimi, en uygun tedaviyi sağlamak için multidisipliner yaklaşım gerektirir. Burada sendromun tüm klasik bulgularına sahip Goldenhar sendromlu yenidoğan vakası sunuldu.
FULL TEXT (PDF): 
PDF icon arastirmax-yenidogan-doneminde-tanimlanan-goldenhar-sendromu-olgu-sunumu.pdf
  • 2
79-82
  • Turkish

REFERENCES

References: 

1. Goldenhar 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;1:243-282.
2. Gorlin RJ, Jue KL, Jacobsen U, Goldschmidt E. Oculoauriculovertebral
Dysplasia. J Pediatr 1963;63:991-999.
3. Tasse C, Bohringer S, Fischer S, Ludecke HJ, Albrecht B,
Horn D, Janecke A, Kling R, Konig R, Lorenz B, Majewski F,
Maeyens E, Meinecke P, Mitulla B, Mohr C, Preischl M,
Umstadt H, Kohlhase J, Gillessen-Kaesbach G, Wieczorek D.
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.
4. Vinay C, Reddy RS, Uloopi KS, Madhuri V, Sekhar RC.
Craniofacial features in Goldenhar syndrome. J Indian Soc
Pedod Prev Dent 2009;27:121-124.
5. Martelli H, Jr., Miranda RT, Fernandes CM, Bonan PR,
Paranaiba LM, Graner E, Coletta RD. Goldenhar syndrome:
clinical features with orofacial emphasis. J Appl Oral Sci
2010;18:646-649.
6. Rollnick BR, Kaye CI, Nagatoshi K, Hauck W, Martin AO.
Oculoauriculovertebral dysplasia and variants: phenotypic
characteristics of 294 patients. Am J Med Genet
1987;26:361-375.
7. Rosa RF, Graziadio C, Lenhardt R, Alves RP, Paskulin GA,
Zen PR. Central nervous system abnormalities in patients
with oculo-auriculo-vertebral spectrum (Goldenhar syndrome).
Arq Neuropsiquiatr 2010;68:98-102.
8. Rosa RF, Silva AP, Goetze TB, Bier Bde A, Almeida ST,
Paskulin GA, Zen PR. Ear abnormalities in patients with
oculo-auriculo-vertebral spectrum (Goldenhar syndrome).
Braz J Otorhinolaryngol 2011;77:455-460.
9. Satokata I, Maas R. Msx1 deficient mice exhibit cleft
palate and abnormalities of craniofacial and tooth development.
Nat Genet 1994;6:348-356.
10. Rosa RF, Dall'agnol L, Zen PR, Pereira VL, Graziadio C,
Paskulin GA. Oculo-auriculo-vertebral spectrum and cardiac
malformations. Rev Assoc Med Bras 2010;56:62-66.

Thank you for copying data from http://www.arastirmax.com