Majewski sendromu

Majewski sendromu, otosomal resesif yolla aktarılan asfiksiyan torasik displazi sendromu'nun 22 fenotipinin 6.sı olan kalıtsal bir sendromdur. Asfiksiyan torasik displazi sendromu'ndaki ortak bulguların büyük bölümü Majewski sendromu'nda da saptanmaktadır. Dudak yarığının orta çizgide olması, epiglot ve larinks malformasyonları ile klavikula ve skapula anomalileri farklı olan bulgulardır.

Kaynakça

1 2 Elçioğlu NH, Hall CM. Diagnostic dilemmas in the short rib-polydactyly syndrome group. American Journal of Medical Genetics, 111: 392-400, 2002
1 2 Huber C, Cormier-Daire V. Ciliary disorder of the skeleton. American Journal of Medical Genetics, 160C: 165-174, 2012
1 2 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

[:0-1] 1 2 Elçioğlu NH, Hall CM. Diagnostic dilemmas in the short rib-polydactyly syndrome group. American Journal of Medical Genetics, 111: 392-400, 2002

[:1-2] 1 2 Huber C, Cormier-Daire V. Ciliary disorder of the skeleton. American Journal of Medical Genetics, 160C: 165-174, 2012

[:2-3] 1 2 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