Çetin AYDIN, Serenat ERİŞ, Yakup YALÇIN, Halime Şen SELİM, Selda UYSAL

Sporadik izole fokomeli

Konjenital ekstremite anomalilerinin intrauterin dönemde ultrasonografi ile erken tespiti gerekli danışmanlığın verilebilmesi açısın- dan önemlidir. Bu makalede sporadik fokomeli olduğu düşünülen postmortem muayene sonuçlarıyla da bu tanı ile uyumlu olduğu görülen bir olgunun sunulması amaçlanmıştır. 20 yaşında, primigravid, kendisinin ve eşinin soygeçmişinde bilinen konjenital ano- mali öyküsü saptanmayan olgunun 22. gebelik haftasındaki obstetrik ultrasonografisinde fetal ekstremite anomalileri izlendi. Tanıyı doğrulayan postmortem radyolojik ve genetik incelemeler yapıldı. Eşlik eden ek malformasyon saptanmadı. Düşük materyalinden yapılan kromozom analizinde herhangi bir sayısal veya gross yapısal kromozom anomalisi gözlenmedi. Patolojik ultrasonografik ve sitogenetik bulgular ile tanı konulan iskelet anomalilerinin postnatal olarak da doğrulanması ailelere verilecek genetik danışma ve olası diğer gebelikler için uygun izlem olanakları sağlayacaktır

Isolated sporadic phocomelia

Early detection of congenital limb anomalies by ultrasonography prenatally is important to give the necessary counseling. The aim of this article is to present a case which is considered to be sporadic phocomelia seems to be compatible with the results of postmortem examination. 20 years-old, primigravid woman without of known family history of congenital anomalies was evaluated. Fetal limb anomalies were observed in ultrasound examination at 22 weeks of gestation. Radiological and genetic studies to validate the diagno- sis were made postmortem. Any additional malformation was found. Any numerical or gross structural chromosomal abnormalities were observed. Confirming the skeletal abnormalities diagnosed by ultrasonography and cytogenetic findings also postnatally provi- de opportunities for genetic counseling to families and appropriate follow-up for other prospective pregnancies

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