Sharma Seema, Sharma Vipin, Awasthi Bhanu, Sehgal Manik, Singla Deeksha A
Associate Professor, Department of Pediatrics, Dr Rajendra Prasad Govt Medical College and Hospital , HP, India .
Associate Professor, Department of Orthopedics, Dr Rajendra Prasad Govt Medical College and Hospital , HP, India .
J Clin Diagn Res. 2015 Jun;9(6):RD08-9. doi: 10.7860/JCDR/2015/13694.6113. Epub 2015 Jun 1.
Sacral agenesis (part of the caudal regression syndrome) is a rare and severe sacral developmental abnormality. It is a congenital malformation of unknown aetiology with possible involvement of genetic and teratogenic factors. It is described by various degrees of developmental failure, the most extreme and rare being sirenomelia or mermaid syndrome. The associated malformations comprise anorectal, vertebral, urological, genital, and lower limb anomalies. Approximately 15-20% mothers of these children have insulin dependent diabetes mellitus. The case is being reported for its rarity and educative value because prognosis is good in isolated sacral agenesis.
骶骨发育不全(尾部退化综合征的一部分)是一种罕见且严重的骶骨发育异常。它是一种病因不明的先天性畸形,可能涉及遗传和致畸因素。它表现为不同程度的发育失败,最极端且罕见的是并腿畸形或美人鱼综合征。相关畸形包括肛门直肠、脊柱、泌尿系统、生殖系统和下肢异常。这些孩子的母亲中约有15 - 20%患有胰岛素依赖型糖尿病。由于孤立性骶骨发育不全的预后良好,现报告此病例以其罕见性和教育价值。