Majewski sendromu

Majewski sendromu, otosomal resesif yolla aktarılan asfiksiyan torasik displazi sendromu’nun 22 fenotipinin 6.sı olan kalıtsal bir sendromdur.[1][2][3] 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.[1][2][3]

Kaynakça

Elçioğlu NH, Hall CM. Diagnostic dilemmas in the short rib-polydactyly syndrome group. American Journal of Medical Genetics, 111: 392-400, 2002
Huber C, Cormier-Daire V. Ciliary disorder of the skeleton. American Journal of Medical Genetics, 160C: 165-174, 2012
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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[:0-1] 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

[:2-3] 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