Bannykh S I, Bannykh G I, Mannino F L, Jones K L, Hansen L, Benirschke K, Masliah E
Department of Pathology, University of California, San Diego Medical Center, San Diego, California 92103-8321, USA.
Teratology. 2001 Feb;63(2):94-9. doi: 10.1002/1096-9926(200102)63:2<94::AID-TERA1015>3.0.CO;2-A.
Caudal duplication is a spectrum of rare congenital anomalies with a possible heterogeneous pathogenesis including incomplete separation of monovular twins.
We report an autopsy case of a full-term infant with incomplete caudal duplication syndrome associated with multiple anomalies.
These anomalies included a duplicated penis; double urinary bladder with an attenuated tunica muscularis; duplication of lower bowel with two ilia, appendices and colons; colonic hypogangliosis and left imperforated anus associated with rectourethral fistula. Other anomalies consisted of sacral meningomyelocele, sacral duplication with hypoplastic left sacrum and pelvic bones, muscle atrophy and hypoplasia of the left lower extremity, abnormal lobation of liver with stomach entrapment, omphalocele, and right atrial isomerism syndrome. The complex pattern of anomalies suggests the possibility that partial caudal duplication might be part of the spectrum of conjoined twinning.
尾端重复畸形是一系列罕见的先天性异常,其发病机制可能具有异质性,包括单卵双胞胎的不完全分离。
我们报告一例足月婴儿尸检病例,该婴儿患有与多种异常相关的不完全尾端重复综合征。
这些异常包括阴茎重复;膀胱双份且肌层变薄;下消化道重复,有两条髂骨、阑尾和结肠;结肠神经节减少以及与直肠尿道瘘相关的左侧肛门闭锁。其他异常包括骶部脊膜脊髓膨出、骶骨重复伴左侧骶骨和骨盆发育不全、左侧下肢肌肉萎缩和发育不全、肝脏分叶异常伴胃受压、脐膨出以及右心房异构综合征。异常的复杂模式提示部分尾端重复可能是联体双胎谱系的一部分。