BibTex RIS Kaynak Göster

Goldenhar Sendromu: bir olgu sunumu Türkçe

Yıl 2013, Cilt: 10 Sayı: 3, 141 - 143, 01.12.2013

Öz

Goldenhar sendromu okülo-aürikülo-vertebral spektrum , göz, vertebra, kalp, akciğer, gastrointestinal, genital, ürolojik, ve otorinolojik anomalilerle karakterize, oldukça heterojen, çoğu kez sporadik olan bir sendromdur. Sıklığı 56,000 canlı doğumda 1 olarak değerlendirilmektedir. Bir günlük erkek bebek emmeme ve ağzından köpük gelmesi nedeniyle getirildi. Vücut ağırlığı 2450 gr, boy 47 cm ve baş çevresi 33 cm idi. Genel durum orta, yenidoğan reflexleri azalmıştı. Hastada burun kökü basıklığı, hipertelorizm, kısa boyun ve bilateral mikrotiası mevcuttu. Sol dış kulak yolu görülmüyordu. Ağlarken ağzını açamıyordu. Ekokardiografik incelemede patent foramen ovale saptandı. Renal ultrasonografide sol pelvik yerleşimli böbrek tesbit edildi. Bilgisayarlı beyin tomografisi normal idi. Temporal kemik tomografisinde bilateral dış kulak yapıları kemikçik yapıları iç akustik kanallar ve mastoid hücre havalanması normaldi. Direkt grafisinde torakal 10. vertebrada hemivertebra aynı seviyede sol kot agenezisi ve açıklığı sola bakan skolyoz tesbit edildi. Kromozom analizinde karyotip 46,XY idi. Kulak anomalisi olan hastalarda Goldenhar sendromunun düşünülmesini hatırlatmak amacıyla bu vaka sunuldu

Kaynakça

  • ) Gorlin RJ, Jue KL, Jacobsen V, Goldschmidt E. Oculoauriculovertebral dysplasia. J Pediatr 1963; 63: 9.
  • ) Ertuğ H, Bircan İ, Karaçor A, Lüleci E. Goldenhar sendromu. Akdeniz Üniversitesi Tıp Fakültesi Dergisi ; 2: 263-70. ) Gorlin RJ, Cohen MM, Levin LS. Brachial arch and oroacral disorders. In: Syndromes of the Head and Neck, (2nd ed). Newyork: Oxford University Press, 1990: 641
  • ) Fiendgold M, Baum J. Goldenhar's syndrome. Am J Dis Child 1978; 132(2): 136-8.
  • ) Setzer ES, Ruiz-Castaneda N, Severn C, Ryden S, F r i a s J L . E t i o l o g i c h e t e r o g e n e i t y i n t h e oculoauriculovertebral syndrome. J pediatr 1981; 98(1): 90.
  • ) Goldenhar M. Associations malformatives de l'oeil et de l'oreille, en particulier le syndrome dermoide epibulbaire-appendices auriculaires-fistula auris congenital et ses relations avec la mandibulofaciale. J Genet Hum 1952; 1: 243-82.
  • ) Gorlin RJ. Jue KL, Jacobsen U, Goldschmidt E. Oculoauriculovertebral dysplasia. J Pediatr 1963; 63: 99.
  • ) Pierpont ME, Moller JH, Gorlin RJ, Edwards JE. Congenital cardiac, pulmonary and vasküler malformations in oculoauriculovertebral dysplasia. Pediatr Cardiol 1982; 2(4): 297-302.
  • ) Nakajima H, Goto G, Tanaka N, Ashiya H, Ibukiyama C. Goldenhar syndrome associated with various cardiovascular malformations. Jpn Circ J 1998; 62(8): 20.
  • ) Kumar A, Friedman JM Taylor GP, Patterson WH. P a t t e r n o f c a r d i a c m a l f o r m a t i o n i n oculoauriculovertebral spectrum. Am J Med Genet 1993; (4): 423-6.
  • ) Lemmerling MM, Vanzieleghem BD, Mortier GR, Dhooge IJ, Kunnen MF. Unilateral semicircular canal aplasia in goldenhar syndrome. AJNR Am J Neuroradiol ; 21(7): 1334-6.
  • ) Miura M, Sando l, Takasaki K, Haginomori S, Hirsch BE. Histopathologic study of temporal bone and eustachian tube in oculoauriculovertebral spectrum. Ann Otol Rhino Laryngel 2001; 110(10): 922-7.
  • ) Scholtz AW, Fish JH 3rd, Kammen-Jolly K, et al. Goldenhar syndrome: congenital hearing deficit of conductive or sensorineural origin? Temporal bone histopathologic study. Otol Neurotol 2001; 22(4): 501-5.
  • ) Greenberg F, Herman GE, Stal S, Gruber H, Ledbetter DH. Chromosome abnormalities associated with facioauriculo-vertebral spectrum. Am J Med Genet Suppl ; 4A(Suppl): 170.

Goldenhar syndrome: a case report

Yıl 2013, Cilt: 10 Sayı: 3, 141 - 143, 01.12.2013

Öz

Goldenhar syndrome okulo-aurikulo-vertebral spectrum , eye, spine, heart, lung, gastrointestinal, genital, urological and otorinolojic anomalies characterized by a highly heterogeneous, a syndrome which is often sporadic. The frequency of live births to 1 in 56,000 is considered. A 1-day-old-male infant was due to arrive at decrease in absorption and foam from the mouth. His weight was 2450 g, length 47 cm and head circumference 33 cm. General condition was moderate, neonatal reflex decreased. Patients had flattened root of the nose, hypertelorism, short neck and bilateral microtia. The left external ear canal was not seen. When he's cry, he could not open his mouth. Echocardiographic examination found a patent foramen ovale. Renal ultrasonography was found in the left pelvic kidney. Computerized tomography of the brain was normal. Tomography of the temporal bone in the ossicular structures of bilateral internalacoustic structure of the external ear canals and mastoid air cells were normal aeration. Direct X-ray thoracic 10 agenesis of the left rib and spine clearance to the left facing the same level of hemivertebrae scoliosis were identified. Chromosome analysis was 46,XY caryotype. Goldenhar syndrome in patients with ear anomalies in order to remind the consideration of this case was presented

Kaynakça

  • ) Gorlin RJ, Jue KL, Jacobsen V, Goldschmidt E. Oculoauriculovertebral dysplasia. J Pediatr 1963; 63: 9.
  • ) Ertuğ H, Bircan İ, Karaçor A, Lüleci E. Goldenhar sendromu. Akdeniz Üniversitesi Tıp Fakültesi Dergisi ; 2: 263-70. ) Gorlin RJ, Cohen MM, Levin LS. Brachial arch and oroacral disorders. In: Syndromes of the Head and Neck, (2nd ed). Newyork: Oxford University Press, 1990: 641
  • ) Fiendgold M, Baum J. Goldenhar's syndrome. Am J Dis Child 1978; 132(2): 136-8.
  • ) Setzer ES, Ruiz-Castaneda N, Severn C, Ryden S, F r i a s J L . E t i o l o g i c h e t e r o g e n e i t y i n t h e oculoauriculovertebral syndrome. J pediatr 1981; 98(1): 90.
  • ) Goldenhar M. Associations malformatives de l'oeil et de l'oreille, en particulier le syndrome dermoide epibulbaire-appendices auriculaires-fistula auris congenital et ses relations avec la mandibulofaciale. J Genet Hum 1952; 1: 243-82.
  • ) Gorlin RJ. Jue KL, Jacobsen U, Goldschmidt E. Oculoauriculovertebral dysplasia. J Pediatr 1963; 63: 99.
  • ) Pierpont ME, Moller JH, Gorlin RJ, Edwards JE. Congenital cardiac, pulmonary and vasküler malformations in oculoauriculovertebral dysplasia. Pediatr Cardiol 1982; 2(4): 297-302.
  • ) Nakajima H, Goto G, Tanaka N, Ashiya H, Ibukiyama C. Goldenhar syndrome associated with various cardiovascular malformations. Jpn Circ J 1998; 62(8): 20.
  • ) Kumar A, Friedman JM Taylor GP, Patterson WH. P a t t e r n o f c a r d i a c m a l f o r m a t i o n i n oculoauriculovertebral spectrum. Am J Med Genet 1993; (4): 423-6.
  • ) Lemmerling MM, Vanzieleghem BD, Mortier GR, Dhooge IJ, Kunnen MF. Unilateral semicircular canal aplasia in goldenhar syndrome. AJNR Am J Neuroradiol ; 21(7): 1334-6.
  • ) Miura M, Sando l, Takasaki K, Haginomori S, Hirsch BE. Histopathologic study of temporal bone and eustachian tube in oculoauriculovertebral spectrum. Ann Otol Rhino Laryngel 2001; 110(10): 922-7.
  • ) Scholtz AW, Fish JH 3rd, Kammen-Jolly K, et al. Goldenhar syndrome: congenital hearing deficit of conductive or sensorineural origin? Temporal bone histopathologic study. Otol Neurotol 2001; 22(4): 501-5.
  • ) Greenberg F, Herman GE, Stal S, Gruber H, Ledbetter DH. Chromosome abnormalities associated with facioauriculo-vertebral spectrum. Am J Med Genet Suppl ; 4A(Suppl): 170.
Toplam 13 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm Olgu Sunumu
Yazarlar

Ayhan Taştekin Bu kişi benim

İsmail Küçükaslan Bu kişi benim

İbrahim Caner Bu kişi benim

Abdullah Erdil Bu kişi benim

Cahit Karakelleoğlu Bu kişi benim

Rahmi Örs Bu kişi benim

Yayımlanma Tarihi 1 Aralık 2013
Yayımlandığı Sayı Yıl 2013 Cilt: 10 Sayı: 3

Kaynak Göster

Vancouver Taştekin A, Küçükaslan İ, Caner İ, Erdil A, Karakelleoğlu C, Örs R. Goldenhar Sendromu: bir olgu sunumu Türkçe. Harran Üniversitesi Tıp Fakültesi Dergisi. 2013;10(3):141-3.

Harran Üniversitesi Tıp Fakültesi Dergisi  / Journal of Harran University Medical Faculty