Sirenomelia “The Mermaid Syndrome “ - Kasus Serial - Mediana Sutopo; Tiarma Uli (PT. Kalbe Farma Tbk., 2017)
Sirenomelia adalah kelainan kongenital yang jarang, angka kejadiannya 0,8 – 1 kasus / 100.000 kelahiran. Sirenomelia bersifat lethal dan biasanya bayi meninggal setelah lahir akibat kelainan kongenital multipel. Etiologi dan patogenesis sirenomelia masih belum diketahui, diduga akibat defek formasi embrional saat pembentukan regio kaudal. Dalam satu tahun kami menemukan 2 kasus sirenomielia. Pada kasus pertama didapatkan gambaran ultrasonografi hipoplasia thorak dan anhidramnion. Pada kasus kedua didapatkan gambaran horseshoe kidney, tidak tampak vesika urinaria, anhidramnion dan penumpukan long bones daerah caudal (femur, tibia dan fibula). Kedua kasus dirujuk dalam keadaan lanjut (trimester dua dan tiga), Jila diketahui dini (pada trimester satu), dapat dilakukan terminasi kehamilan dini pervaginam sehingga dapat mengurangi morbiditas ibu.Sirenomelia is a rare congenital disorder, the incidence is 0.8-1 case/100,000 births. Sirenomelia is lethal, the baby usually die after birth due to multiple congenital anomaly. The etiology and pathogenesis of sirenomelia is suspected due to a defect in the embryonic formation of the caudal region. We found two cases of sirenomielia in a year. The first case was found with thoracic hypoplasia and anhidramnion. The second case was found with horseshoe kidney, without clear bladder appearance, anhidramnion and piled long bones the caudal region (femur, tibia and fibula ). Both cases were referred to our hospital in second and third trimesters of pregnancy. Identification in early stage can reduce maternal morbidity by earlier vaginal termination of pregnancy.