Su S L, Liu C M, Lee J N
Department of Obstetrics and Gynecology, Kaohsiung Medical College, Taiwan, Republic of China.
Gaoxiong Yi Xue Ke Xue Za Zhi. 1995 Feb;11(2):127-32.
Two cases of Meckel-Gruber syndrome are presented. In the first case, abdominal tumor and decreased amniotic fluid were initially suspected. In the second case, Omphalocele was diagnosed by local practitioners. Thorough obstetric sonographic studies revealed encephalocele, bilateral renal cystic dysplasia, polydactyly, microcephalus, intrauterine growth retardation (IUGR) and oligohydramnios. Chromosomal analysis by percutaneous umbilical cord blood sampling (PUBS) was normal with 46,XY in Case 1 and 46,XX in Case 2. The prenatal diagnoses were confirmed by autopsy. The pathologic reports revealed type I polycystic kidney, bile duct proliferation, fibrosis of the portal area, encephalocele and polydactyly. It is interesting to note that the two cases came from two different families without any family history of inherited disease.
本文报告了两例梅克尔-格鲁伯综合征病例。第一例最初怀疑有腹部肿瘤和羊水减少。第二例由当地医生诊断为脐膨出。全面的产科超声检查发现了脑膨出、双侧肾囊性发育不良、多指畸形、小头畸形、宫内生长受限（IUGR）和羊水过少。通过经皮脐血采样（PUBS）进行的染色体分析显示，病例1为46,XY，病例2为46,XX，均正常。尸检证实了产前诊断。病理报告显示为I型多囊肾、胆管增生、门脉区纤维化、脑膨出和多指畸形。有趣的是，这两例来自两个不同的家庭，均无任何遗传病家族史。
