PDF(Pubmed)
Abstract：
UNASSIGNED: Sacral agenesis is a rare congenital condition that is characterized by sacrococcygeal bone agenesis. It is associated with spinal cord anomalies as well as problems with the genitourinary system, large bowel, and lower extremities. Fetal ultrasound allows for diagnosis even before birth.
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.
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.
摘要：
■骶骨发育不全是一种罕见的先天性疾病，其特征是骶尾部骨发育不全。它与脊髓异常以及泌尿生殖系统的问题有关，大肠,和下肢。胎儿超声检查甚至可以在出生前进行诊断。
■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。
■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。
