Genest D R, Driscoll S G, Bieber F R
Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts 02115.
Teratology. 1991 Oct;44(4):365-71. doi: 10.1002/tera.1420440402.
The so-called "prune belly" syndrome (PBS) consists of megalocystis, cryptorchidism, and marked abdominal distension; in addition to these findings, many other abnormalities are commonly present, rarely including severe anomalies of the leg. We report two such individuals, in whom PBS coexisted with abnormal development of the lower extremity. The first, a still-born male fetus, was delivered at 21 weeks gestation; generalized hypoplasia of both legs was present, more marked distally than proximally, and more severe on the left. The second case, a liveborn male infant, was the second of dichorionic twins, delivered at 33 weeks gestation; this infant died at two hours from respiratory insufficiency due to pulmonary hypoplasia. There was severe hypoplasia of the right leg, with gangrenous necrosis of all tissues distal to the knee. Additional findings included a single right umbilical artery, and a small congenital cystic adenomatoid malformation of the right lung. The findings in these cases are compared to other similar cases in the literature, and possible mechanisms for the etiology and pathogenesis of maldevelopment of the leg in PBS are discussed.
所谓的“梨状腹”综合征（PBS）包括巨膀胱、隐睾症和明显的腹胀；除了这些表现外，通常还存在许多其他异常情况，很少包括腿部的严重畸形。我们报告了两名这样的患者，他们的PBS与下肢发育异常并存。第一例是一名死产男胎，孕21周时分娩；双腿普遍发育不全，远端比近端更明显，左侧更严重。第二例是一名活产男婴，是双绒毛膜双胎中的第二个，孕33周时分娩；该婴儿因肺发育不全导致呼吸功能不全，在两小时后死亡。右腿严重发育不全，膝关节以下所有组织均发生坏疽性坏死。其他发现包括单条右侧脐动脉和右肺小先天性囊性腺瘤样畸形。将这些病例的发现与文献中其他类似病例进行了比较，并讨论了PBS中腿部发育异常的病因和发病机制的可能机制。
