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Amnion rüptürü sekansı.
Amnion rüptürü sekansı (Amnion rupture sequence), amnion kesesinin erken yırtılması (rüptür) nedeniyle içerdiği sıvının yitirilmesi sonucu ortaya çıkar; Potter sequence olgusundakine benzer bir mekanizmayla oluşur (oligohidramnios).[1] Doğum öncesi (intrauterin) gelişme geriliği vardır. Göbek kordonu kısadır. Deride dairesel bası izleri saptanır. Kol ve bacaklarda anomaliler ile doğumdan önce oluşmuş ampütasyonlar, sindaktili, skolyoz gibi iskelet sistemi malformasyonları vardır. Bu bulgulara ek olarak çok sayıda kraniyofasiyal anomali vardır: Mikrosefali, yonca yaprağı kafatası; frontal kemik defektleri; dudak, damak ve yüz yarıkları başlıcalarıdır. Göz anomalileri ve defektleri, nöral tüp ve beyin anomalileri saptanır. Kalp, toraks-dışı yerleşim gösterebilir. Karın duvarı açıklığı olabilir.[1][2][3]
- ^ a b Kalousek DK, Bamforth S. Amnion Rupture Sequence in Previable Fetuses. American Journal of Medical Genetics, 31(1):63-73, 1988
- ^ Gorlin RJ, Cohen MM Jr, Hennekam RCM. Syndromes of the Head and Neck. 4th edt. University Press, Oxford NY, 2001
- ^ Dufresne CR, Jelks GW. Classification of Craniofacial Malformations. In: Smith and Nesi’s Ophthalmic Plastic and Reconstructive Surgery (pp.1051-1072), (Black E, Nesi F, Calvano C, Gladstone G, Levine M, editors), 3rd edition, Springer, New York, 2012
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