Department of Surgical Paediatrics, Royal Hospital For Sick Children, Yorkhill, G3 8SJ, Glasgow, United Kingdom.
J Pediatr Surg. 2012 Aug;47(8):1600-3. doi: 10.1016/j.jpedsurg.2012.05.017.
We describe a male infant presenting in the neonatal period with bowel obstruction who had features of anal stenosis, a presacral teratoma, and a sacral anomaly consistent with Currarino's syndrome. Initial management involved a defunctioning colostomy followed by a posterior sagittal excision of the teratoma and repair of the anorectal defect. The proband's eldest sister is also affected with features of Currarino's syndrome but was diagnosed later in life. The proband, his sister, and the mother have been identified to have the HLXB9 mutation mapped to chromosome 7q36.
我们描述了一名男性新生儿，其在新生儿期出现肠梗阻，具有肛门狭窄、骶前畸胎瘤和与 Currarino 综合征一致的骶骨异常等特征。初步治疗包括施行预防性结肠造口术，随后进行骶尾部畸胎瘤后矢状切除术和肛门直肠缺损修复术。先证者的大姐也有 Currarino 综合征的特征，但在以后的生活中被诊断出来。已经发现先证者、他的姐姐和母亲都存在定位于 7q36 染色体的 HLXB9 突变。
