Lhuaire Martin, Jestin Agnès, Boulagnon Camille, Loock Mélanie, Doco-Fenzy Martine, Gaillard Dominique, Diebold Marie-Danièle, Avisse Claude, Labrousse Marc
Department of Anatomy, Faculté de Médecine de Reims, Université de Reims Champagne-Ardenne, Reims, France.
Birth Defects Res A Clin Mol Teratol. 2013 Mar;97(3):123-32. doi: 10.1002/bdra.23125.
Sirenomelia or "mermaid syndrome" is a rare congenital anomaly known since antiquity. This congenital anomaly is defined as a polymalformative syndrome that associates major muscle and skeleton abnormalities (unique lower limbs) with visceral abnormalities (unilateral or bilateral renal agenesis, anomalies of the abdominal vascularisation). This phenotype, typical of sirenomelia syndrome, may be more or less severe. The pathogenic mechanisms of this syndrome are still debated and its etiology remains unknown. We report here a new type of sirenomelia that we observed in a fetus belonging to the collection of the Department of Anatomy of Reims, which led us to perform a comprehensive review of the literature on the subject: this type has never been reported and cannot be classified according to the Stocker and Heifetz classification. Moreover, this case also presents a VACTERL association with Thomas syndrome.
联体双下肢畸形或“美人鱼综合征”是一种自古就为人所知的罕见先天性异常。这种先天性异常被定义为一种多畸形综合征,它将主要的肌肉和骨骼异常(独特的下肢)与内脏异常(单侧或双侧肾缺如、腹部血管异常)联系在一起。这种联体双下肢畸形综合征的典型表型可能或多或少较为严重。该综合征的致病机制仍存在争议,其病因也尚不清楚。我们在此报告在兰斯解剖学系收藏的一个胎儿中观察到的一种新型联体双下肢畸形,这促使我们对该主题的文献进行全面综述:这种类型从未被报道过,也无法根据斯托克和海费茨分类法进行分类。此外,该病例还呈现出与托马斯综合征相关的VACTERL综合征。