Ceylan Yasin, Doğan Yasemin, Özkan Özdemir Sebiha, Yücesoy Gülseren
Kocaeli University Faculty of Medicine, Department of Obstetrics and Gynecology, Kocaeli, Turkey.
Turk J Obstet Gynecol. 2016 Mar;13(1):50-52. doi: 10.4274/tjod.90688. Epub 2016 Mar 10.
Sirenomelia or "mermaid syndrome" is a rare congenital syndrome characterized by the anomalous development of the caudal region of the body. We present a case of sirenomelia diagnosed in the first trimester using two-dimensional and three-dimensional ultrasonographic examination. A nulliparous woman aged thirty years was referred to our perinatology unit for evaluation because of oligohydramnios at 12 weeks of gestation. Her medical history was unremarkable. There was no family history of genetic abnormalities. We identified a single lower extremity and severe oligohydramnios, which are characteristics of sirenomelia. Sirenomelia, a developmental defect involving the caudal region of the body, is associated with several internal visceral anomalies. Sirenomelia is fatal in most cases due to the characteristic pulmonary hypoplasia and renal agenesia. Prenatal diagnosis of sirenomelia may be difficult in the second or third trimester because of the severe oligohydramnios; it should be easier to diagnose sirenomelia in the first trimester.
联体双下肢畸形或“美人鱼综合征”是一种罕见的先天性综合征，其特征为身体尾部区域发育异常。我们报告一例在孕早期通过二维和三维超声检查诊断出的联体双下肢畸形病例。一名30岁未生育的女性因妊娠12周时羊水过少被转诊至我们的围产医学科进行评估。她的病史无异常。无遗传异常家族史。我们发现了单一的下肢以及严重羊水过少，这些都是联体双下肢畸形的特征。联体双下肢畸形是一种涉及身体尾部区域的发育缺陷，与多种内脏异常有关。由于典型的肺发育不全和肾缺如，联体双下肢畸形在大多数情况下是致命的。在孕中期或孕晚期，由于严重羊水过少，联体双下肢畸形的产前诊断可能困难；而在孕早期诊断联体双下肢畸形应该更容易。
