Saldino-Noonan sendromu

Saldino-Noonan sendromu (Short-rib thoracic dysplasia 3), otosomal resesif  yolla aktarılan asfiksiyan torasik displazi sendromu’nun 22 fenotipinin 3.sü olan kalıtsal bir sendromdur. Asfiksiyan torasik displazi sendromu’nun ortak bulgularına ek olarak, dilde hamartomalar, klavikulaların bisiklet gidonu biçiminde olması, cinsel organlarda malformasyonlar, enkondral ossifikasyon bozuklukları, tibia yokluğu ve skolyoz vardır.[1][2][3][4]

Kaynakça
  1. Dagoneau N, Goulet M, Genevieve D, et al. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. American Journal of Human Genetics, 84: 706-711, 2009
  2. Elçioğlu NH, Hall CM. Diagnostic dilemmas in the short rib-polydactyly syndrome group. American Journal of Medical Genetics, 111: 392-400, 2002
  3. Huber C, Cormier-Daire V. Ciliary disorder of the skeleton. American Journal of Medical Genetics, 160C: 165-174, 2012
  4. Schmidts M, Vodopiutz J, Christou-Savina S, et al. Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. American Journal of Human Genetics, 93: 932-944, 2013
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