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Apert Sendromu: Olgu Sunumu Ve Literatürün Gözden Geçirilmesi

Year 2006, Volume: 23 Issue: 2, 59 - 64, 30.12.2009

Abstract

Apert Syndrome: A Case Report and Review of the Literature


The prevalence of Apert syndrome is approximately 15.5 in bir million births. The principal features are craniosynostosis, midfacial hypoplasia, syndactyly of the hands and feet with mild, moderate or severe mental retardation. Inheritance is usually autosomal dominant. However most cases represent new mutations. Prenatal diagnosis has been mainly based on sonographic documentation of craniosynostosis and syndactly. A newborn with Apert syn d rom e is presented and related literature was reviewed in this paper.


Apert sendromu prevelansı bir milyon doğumda 15.5 olup nadir görülen bir hastalıktır. Kra-niyosinostoz, yüzün orta kısmında hipoplazi, el ve ayaklarda simetrik sindaktili ve hafiften ağıra kadar değişen derecelerde mental retardasyonla karakterizedir. Kalıtım şekli otozomal dominant olmakla birlikte olguların çoğunu yeni mutasyonlar oluşturur. Prenatal tanı temel olarak ultrasonografi ile kraniosinostoz ve sindaktilinin gösterilmesi ile konur. Bu yazıda Apert sendromu tanısı alan bir yenidoğan olgusu sunulmuş, ilgili literatür gözden geçirilmiştir.

References

  • Katzen JT, McCarthy JG. Syndromes involving and Otolaryngol Clin North Am 2000; 33: 1257–1284.
  • Cohen MM Jr, Kreiborg S. Visceral anomalies in the Apert syndrome. Am J Med Genet 1993; 45: 758–760.
  • Moloney DM, Slaney SF, Oldridge M et al. Exclusive paternal origin of new mutations in Apert syndrome. Nat Genet 1996; 13: 48–53. midface hypoplasia.
  • Wilkie AO, Slaney SF, Oldridge M, poole MD, Ashworth GJ, Hockley AD, Hayward RD, david DJ, Pulleyn LJ, Rutland P, et al. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet. 1995; 9: 165–72
  • Hajihossein MK, Wilson S, De Moerlooze L, Dickson C. A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome- l i k e phenotypes. Proc Natal Acad Sci USA 2001; 98: 3855–3860.
  • Lyu KJ, Ko TM. Prenatal ultrasound diagnosis of Apert syndrome with widely separated cranial sutures. Prenatal Diagn 2000; 20: 254–256.
  • Narayan H, Scott IV. Prenatal diagnosis of Apert s y n d r o m e . Prenat Diagn 1991; 10: 187–192.
  • Fereira JC, Carter SM, Bernstein PS et al. Second- trimester molecular prenatal diagnonosis of sporadic Apert synrome following suspicious ultrasound findings. Ultrasound Obstet Gynecol 1999; 14: 426–430.
  • Dao KD, Shin AY, Kelley S, Wood VE. Synostosis of the ring-small finger metacarpal in Apert acrosyn- dactyly hands: incidance and treatment. J Pediatr Orthop 2001; 21: 502–507.
  • Sarimski K. Social adjustment of children with a
  • severe cranofacial anomaly (Apert syndrome). Child
  • Care Health Dev 2001; 27: 583–590.
Year 2006, Volume: 23 Issue: 2, 59 - 64, 30.12.2009

Abstract

References

  • Katzen JT, McCarthy JG. Syndromes involving and Otolaryngol Clin North Am 2000; 33: 1257–1284.
  • Cohen MM Jr, Kreiborg S. Visceral anomalies in the Apert syndrome. Am J Med Genet 1993; 45: 758–760.
  • Moloney DM, Slaney SF, Oldridge M et al. Exclusive paternal origin of new mutations in Apert syndrome. Nat Genet 1996; 13: 48–53. midface hypoplasia.
  • Wilkie AO, Slaney SF, Oldridge M, poole MD, Ashworth GJ, Hockley AD, Hayward RD, david DJ, Pulleyn LJ, Rutland P, et al. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet. 1995; 9: 165–72
  • Hajihossein MK, Wilson S, De Moerlooze L, Dickson C. A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome- l i k e phenotypes. Proc Natal Acad Sci USA 2001; 98: 3855–3860.
  • Lyu KJ, Ko TM. Prenatal ultrasound diagnosis of Apert syndrome with widely separated cranial sutures. Prenatal Diagn 2000; 20: 254–256.
  • Narayan H, Scott IV. Prenatal diagnosis of Apert s y n d r o m e . Prenat Diagn 1991; 10: 187–192.
  • Fereira JC, Carter SM, Bernstein PS et al. Second- trimester molecular prenatal diagnonosis of sporadic Apert synrome following suspicious ultrasound findings. Ultrasound Obstet Gynecol 1999; 14: 426–430.
  • Dao KD, Shin AY, Kelley S, Wood VE. Synostosis of the ring-small finger metacarpal in Apert acrosyn- dactyly hands: incidance and treatment. J Pediatr Orthop 2001; 21: 502–507.
  • Sarimski K. Social adjustment of children with a
  • severe cranofacial anomaly (Apert syndrome). Child
  • Care Health Dev 2001; 27: 583–590.
There are 12 citations in total.

Details

Primary Language English
Journal Section Basic Medical Sciences
Authors

Y. Açıkgöz This is me

N. Belet This is me

T. Yalın This is me

L. İncesu This is me

Ş. Küçüködük This is me

Publication Date December 30, 2009
Submission Date October 26, 2009
Published in Issue Year 2006 Volume: 23 Issue: 2

Cite

APA Açıkgöz, Y., Belet, N., Yalın, T., İncesu, L., et al. (2009). Apert Sendromu: Olgu Sunumu Ve Literatürün Gözden Geçirilmesi. Journal of Experimental and Clinical Medicine, 23(2), 59-64. https://doi.org/10.5835/jecm.v23i2.48
AMA Açıkgöz Y, Belet N, Yalın T, İncesu L, Küçüködük Ş. Apert Sendromu: Olgu Sunumu Ve Literatürün Gözden Geçirilmesi. J. Exp. Clin. Med. December 2009;23(2):59-64. doi:10.5835/jecm.v23i2.48
Chicago Açıkgöz, Y., N. Belet, T. Yalın, L. İncesu, and Ş. Küçüködük. “Apert Sendromu: Olgu Sunumu Ve Literatürün Gözden Geçirilmesi”. Journal of Experimental and Clinical Medicine 23, no. 2 (December 2009): 59-64. https://doi.org/10.5835/jecm.v23i2.48.
EndNote Açıkgöz Y, Belet N, Yalın T, İncesu L, Küçüködük Ş (December 1, 2009) Apert Sendromu: Olgu Sunumu Ve Literatürün Gözden Geçirilmesi. Journal of Experimental and Clinical Medicine 23 2 59–64.
IEEE Y. Açıkgöz, N. Belet, T. Yalın, L. İncesu, and Ş. Küçüködük, “Apert Sendromu: Olgu Sunumu Ve Literatürün Gözden Geçirilmesi”, J. Exp. Clin. Med., vol. 23, no. 2, pp. 59–64, 2009, doi: 10.5835/jecm.v23i2.48.
ISNAD Açıkgöz, Y. et al. “Apert Sendromu: Olgu Sunumu Ve Literatürün Gözden Geçirilmesi”. Journal of Experimental and Clinical Medicine 23/2 (December 2009), 59-64. https://doi.org/10.5835/jecm.v23i2.48.
JAMA Açıkgöz Y, Belet N, Yalın T, İncesu L, Küçüködük Ş. Apert Sendromu: Olgu Sunumu Ve Literatürün Gözden Geçirilmesi. J. Exp. Clin. Med. 2009;23:59–64.
MLA Açıkgöz, Y. et al. “Apert Sendromu: Olgu Sunumu Ve Literatürün Gözden Geçirilmesi”. Journal of Experimental and Clinical Medicine, vol. 23, no. 2, 2009, pp. 59-64, doi:10.5835/jecm.v23i2.48.
Vancouver Açıkgöz Y, Belet N, Yalın T, İncesu L, Küçüködük Ş. Apert Sendromu: Olgu Sunumu Ve Literatürün Gözden Geçirilmesi. J. Exp. Clin. Med. 2009;23(2):59-64.