Schiesser Monika, Holzgreve Wolfgang, Lapaire Olav, Willi Nils, Lüthi Hans, Lopez Roberto, Tercanli Sevgi
University Women's Hospital, Basel, Switzerland.
Prenat Diagn. 2003 Jun;23(6):493-5. doi: 10.1002/pd.624.
The sirenomelia sequence with fusion, rotation, hypotrophy or atrophy of the lower limbs in combination with severe urogenital and gastrointestinal malformations is a rare and usually lethal disorder. We present the case of a 28-year-old woman, who was referred to our department because of an intraabdominal cystic structure in the 9th week of gestation. Subsequent scans confirmed the diagnosis of a sirenomelia sequence with the fusion of the lower extremities without fusion of the bones according to Stocker I classification. The size of the intraabdominal cyst decreased during follow-up. After counseling, termination of pregnancy was induced. The postmortem X-ray confirmed the ultrasound diagnosis. The exact etiological mechanism of this malformation is still unknown. An early alteration of the embryological vascular network damaging the caudal mesoderm is thought to lead to arrested development of the lower limbs and other affected organs. The cyst we saw in the 9th week might fit with this theory, either as an expression of the complex malformation of the lower abdomen or as the sonographic appearance of necrosis.
下肢融合、旋转、发育不全或萎缩并伴有严重泌尿生殖系统和胃肠道畸形的并腿畸形序列是一种罕见且通常致命的疾病。我们报告一例28岁女性病例，该患者因妊娠9周时发现腹腔内囊性结构而转诊至我科。后续扫描根据斯托克I型分类法确诊为并腿畸形序列，下肢融合但骨骼未融合。随访期间腹腔内囊肿大小减小。咨询后，实施了引产。尸检X线证实了超声诊断。这种畸形的确切病因机制尚不清楚。胚胎血管网络的早期改变损害尾侧中胚层被认为会导致下肢和其他受累器官发育停滞。我们在第9周看到的囊肿可能符合这一理论，要么是下腹部复杂畸形的一种表现，要么是坏死的超声表现。
