Oral duplikasyon-yarık damak sendromu

Oral duplikasyon-yarık damak sendromu, embriyodaki gelişme kusuru (notokordun çatallanması) sonucu ortaya çıkan, çok ender görülen, genetik altyapısı bilinmeyen bir sendromdur.[1][2] Bilinen 4 tipi vardır;[1][3][4][5]

  1. Tek ağız-maksiller ark duplikasyonu
  2. Süpernümerer ağız (lateralde)-rudimanter mandibula
  3. Tek ağız-çok segmentli mandibula
  4. Gerçek yüz duplikasyonu (disprosopus)

Bu tiplerde saptanan bulgulara ek olarak hipertelorizm, yarık dil, yarık damak, Fallot tetralojisi, hipofiz anomalisi, psikomotor gerilik saptanır.[1][3][4][5]

Kaynakça
  1. Avery JK, Hayward JR. Case report: duplication of oral structures with cleft palate. The Cleft Palate Journal, 1969 Oct; 6:506-515, 1969
  2. Yaqoob M, Mahmood F, Hanif G, et al. Etiology and genetic factors in clefts of lip and/or palate reported at children's hospital, Lahore, Pakistan. Indian Journal of Human Genetics, 19(2):136-43, 2013
  3. Maeda Y, Suenaga H, Sugiyama M, et al. Clinical presentation of epignathus teratoma with cleft palate; and duplication of cranial base, tongue, mandible, and pituitary gland. Journal of Craniofacial Surgery, 24(4):1486-1491, 2013
  4. Louw JJ, Corveleyn A, Jia Y, et al. MEIS2 involvement in cardiac development, cleft palate, and intellectual disability. American Journal of Medical Genetics A, 167A: 1142-1146, 2015
  5. Noguchi T, Sugiyama T, Sasaguri KI, et al. Surgical management of duplication of the pituitary gland-plus syndrome with epignathus, cleft palate, duplication of mandible, and lobulated tongue. Journal of Craniofacial Surgery, 28(2):e141-e144, 2017
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