UNASSIGNED: The authors present the case of a 1-year-old girl with sacral agenesis type III and bilateral congenital talipes equinovarus with spina bifida who was born to a nondiabetic mother and had a normal anomaly scan.
UNASSIGNED: People with less severe forms of sacral agenesis can live a normal life, and it is not connected with cognitive impairment; however, concomitant bladder, colon, and lower limb disorders cause considerable morbidity. The majority of treatment is supportive, frequently requiring orthopedic, urological, gastroenterological, pediatric, and physiotherapy support.
UNASSIGNED: Genetic and prepregnancy counseling, as well as early screening of high-risk mothers, remain the only options for prevention of the disease since treatment is mostly supportive.
■作者介绍了一个1岁女孩的病例,该女孩患有III型骶骨发育不全和双侧先天性马蹄内翻足并伴有脊柱裂,该女孩是非糖尿病母亲所生的,具有正常的异常扫描。
■骶骨发育不全较不严重的人可以过正常的生活,它与认知障碍无关;然而,伴随膀胱,结肠,和下肢疾病引起相当大的发病率。大多数治疗是支持性的,经常需要矫形,泌尿外科,胃肠病学,儿科,和物理治疗支持。
■遗传和孕前咨询,以及对高危母亲的早期筛查,仍然是预防这种疾病的唯一选择,因为治疗大多是支持性的。