Bruce Jocelyn H, Romaguera Rita L, Rodriguez Maria M, González-Quintero Víctor H, Azouz E Michel
Department of Pathology, Leonard M. Miller, School of Medicine, University of Miami, Miami, Florida 33136, USA.
Fetal Pediatr Pathol. 2009;28(3):109-31. doi: 10.1080/15513810902772383.
Caudal dysplasia syndrome (CDS) is associated with hypoplastic lower extremities, caudal vertebrae, sacrum, neural tube, and urogenital organs. Sirenomelia is characterized by a single lower extremity, absent sacrum, urogenital anomalies, and imperforate anus. There is controversy in the medical literature about whether sirenomelia and CDS are part of the spectrum of the same malformation. Patients with CDS and sirenomelia were identified from our pathology files from 1991 to 2006. Maternal history, pathologic examination, and radiographs were collected and tabulated. We found 9 cases with CDS and 6 with sirenomelia. Fully 7 of 9 patients with CDS (77.7%) versus none of sirenomelic babies were infants of diabetic mothers. Congenital heart disease was present in 5 patients with CDS (55.5%) and none of the infants with sirenomelia. Of 9 children with CDS 2 (22.2%) had bilateral renal agenesis versus 66% of sirenomelics. Single umbilical artery was found in 33% of cases with CDS and 100% of children with sirenomelia. External genitalia were ambiguous in 2 of 9 patients (22.2%) with CDS and in all patients with sirenomelia. Imperforate anus was found in 10 cases (66.6%) divided as 4 of 9 babies with CDS (44.4%) and all patients with sirenomelia. Three patients with CDS had concomitant maternal diabetes mellitus and chronic hypertension. These babies also had cleft lip and palate. Congenital heart disease was found in 55.5% of cases with CDS and none of the children with sirenomelia. We conclude that although CDS and sirenomelia share many similar features, they are two different entities.
尾部发育不全综合征（CDS）与下肢、尾椎、骶骨、神经管及泌尿生殖器官发育不全有关。并腿畸形以单一下肢、骶骨缺如、泌尿生殖系统异常及肛门闭锁为特征。医学文献中对于并腿畸形和CDS是否属于同一畸形谱系存在争议。从我们1991年至2006年的病理档案中识别出患有CDS和并腿畸形的患者。收集并整理了产妇病史、病理检查及X光片。我们发现9例CDS患者和6例并腿畸形患者。9例CDS患者中有7例（77.7%）是糖尿病母亲的婴儿，而并腿畸形婴儿中无一例是。5例CDS患者（55.5%）患有先天性心脏病，而并腿畸形婴儿中无一例。9例CDS患儿中有2例（22.2%）双侧肾缺如，而并腿畸形患儿中这一比例为66%。33%的CDS病例及100%的并腿畸形患儿发现单脐动脉。9例CDS患者中有2例（22.2%）外生殖器模糊不清，所有并腿畸形患者均如此。9例婴儿中有10例（66.6%）发现肛门闭锁，其中CDS患儿4例（44.4%），所有并腿畸形患者均如此。3例CDS患者的母亲患有糖尿病和慢性高血压。这些婴儿还患有唇腭裂。55.5%的CDS病例发现先天性心脏病，而并腿畸形患儿中无一例。我们得出结论，尽管CDS和并腿畸形有许多相似特征，但它们是两种不同的病症。
