AI Summary & Key Takeaways
AI InsightTo our knowledge, we present the fi rst case of CantrellPentalogy associated with phocomelia.Key words: Cantrell pentalogy; phocomelia; pentalogy syndrome; ectopiacordis; abdominal wall defects; diaphram defect; pericardium defect;scoliosis
📌 3 Key Takeaways
Abstract
Pentalogy of Cantrell is a rare congenital syndrome; described asthe association of partial or complete ectopia cordis, a supraumbilicalabdominal wall defect, congenital heart defects, defects inthe lower sternum, pericardium, and a defi ciency at the anteriordiaphragm. In this case, a woman at 20th week of her pregnancywas referred to our clinic with the diagnosis of gastrochisis,however diagnosed with a Cantrell pentalogy associated with aphocomelia of the left upper extremity. Following the terminationof the pregnancy postmortem examination confi rmed the prenataldiagnosis. To our knowledge, we present the fi rst case of CantrellPentalogy associated with phocomelia.Key words: Cantrell pentalogy; phocomelia; pentalogy syndrome; ectopiacordis; abdominal wall defects; diaphram defect; pericardium defect;scoliosis
Özet
Cantrell pentalojisi; kısmi ya da tam ektopia kordis, supraumbilikalkarın ön duvar duvar defekti, konjenital kalp defektleri, sternum altucu, perikardium ve ön diyafram defektleri birliktelikleri olan ve nadirgörülen bir sendromdur. Olgumuzda; gebeliğinin 20. haftasındagastroșizis ön tanısıyla refere edilen bir gebenin fetüsünde Cantrellpentalojisi ve sol üst ekstremitede fokomeli saptanmıștır. Tıbbi tahliyesonrası yapılan post mortem incelemede tanı doğrulanmıștır.Bizim bilgimize göre Cantrell Pentalojisi ile fokomeli birlikteliği olanilk olguyu sunuyoruz.Anahtar kelimeler: Cantrell pentalojisi; fokomelia; pentaloji sendromu;ektopik kalp; karın duvarı defekti; diyafram defekti; skolyoz