Prenatal diagnosis of Pena-Shokeir syndrome as a rare lethal disorder influencing fetal neuromusculary system: A case report
Pena-Shokeir sendromu tip 1 (fetal akinezi deformasyon sekansı, FADS); anormal ekstremitepozisyonu, akustik stimülasyonla azalmış veya kısıtlanmış fetal hareket, büyüme geriliği,polihidramniyos ve pulmoner hipoplazi bulgularının kombinasyonu ile karakterize sıklıklaotozomal resesif olan öldürücü bir bozukluktur. Kamptodaktili, hokey sopası şekilli ayaklar veayaklarda içe dönüklük gibi ekstremite problemleri sendromun diğer bulgularıdır. Eşi ile akrabaevliliği yapan 24 yaşında gebe bir kadının obstetrik ultrasonografik muayenesinde; Pena-Shokeirsendromu fenotipi ile uyumlu olacak şekilde, üst ve alt ekstremitelerde kontraktürler, yutmaeksikliğine bağlı polihidramniyos, bilateral el bileği, dirsek ve diz eklemlerinde persistan fleksiyondeformitesi olan tek erkek fetüs tespit edildi. Aile tanı ve kötü prognoz hakkında bilgilendirildi.Fetüsün viyabilite ihtimali yoktu ve gebelik terminasyonu önerilen aile bunu kabul etti. Bir Pena- Shokeir sendromu vakasının prenatal ve postnatal, sonografik, patolojik ve genetik tanısalözelliklerini sunuyoruz.
Fetal nöromuskuler sistemi etkileyen nadir öldürücü bir bozukluk olarak Pena- Shokeir sendromunun p renatal tanısı: Bir vaka sunumu
Pena-Shokeir syndrome type I (fetal akinesia deformation sequence, FADS) is a mostly autosomalrecessive lethal disorder characterised by combination of abnormal limb position, restrictive fetalmovement with reduced or absent response to acoustic stimulation, growth restriction,polyhydramnios, and pulmonary hypoplasia. Limb defects like camptodactyly, rocker bottom feetand clubfoot are other prominents of the syndrome. Obstetric ultrasonographic examination of a24-year-old pregnant woman, consanguineous with her husband, revealed a single male fetus withcontractures of the upper and the lower limbs and polyhydramnios due to the absence ofswallowing, persistent flexion of the bilateral wrist, elbow joints and the knee joints consistentwith Pena Shokeir syndrome phenotype. The parents were informed about the diagnosis and itspoor prognosis. Fetus had no viability, therefore the termination of the pregnancy was offered tothe parents and they accepted. We report the prenatal and postnatal sonographic, pathologic andgenetic diagnostic features of a Pena-Shokeir syndrome case.
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