Jegadeesh Sundram, Mahajan Jai Kumar
Department of Pediatric Surgery, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
BMJ Case Rep. 2016 Jan 20;2016:bcr2015214130. doi: 10.1136/bcr-2015-214130.
Cloacal dysgenesis sequence (CDS) is a rare congenital anomaly. It is characterised by a smooth perineum with absence of anal and genitourinary orifices, with reported incidence of 1:50,000-250,000 births. Association with bilateral renal agenesis is still rarer and resultant severe oligohydramnios is associated with pulmonary hypoplasia. Only a few cases of CDS with bilateral renal agenesis have been reported in the English language literature, with associated pulmonary hypoplasia as a default phenomenon. We report a case of CDS and bilateral renal agenesis without associated pulmonary hypoplasia in a twin pregnancy, which, to the best of our knowledge, is the second reported case of this amalgamation.
泄殖腔发育不全序列征(CDS)是一种罕见的先天性异常。其特征为会阴平滑,无肛门及泌尿生殖孔,据报道发病率为1:50,000 - 250,000活产儿。与双侧肾缺如相关的情况更为罕见,由此导致的严重羊水过少与肺发育不全有关。英文文献中仅报道了少数伴有双侧肾缺如的CDS病例,且伴有肺发育不全是默认现象。我们报告一例双胎妊娠中出现的CDS合并双侧肾缺如但无相关肺发育不全的病例,据我们所知,这是该合并情况的第二例报道。