Ickowicz V, Eurin D, Maugey-Laulom B, Didier F, Garel C, Gubler M C, Laquerrière A, Avni E F
Department of Pediatric Imaging, Charles Nicolle Hospital, Rouen, France.
Ultrasound Obstet Gynecol. 2006 Mar;27(3):296-300. doi: 10.1002/uog.2708.
To define a specific sonographic pattern for the appearance of the kidneys in fetuses affected by Meckel-Grüber syndrome (MGS).
This was a retrospective analysis of 30 cases, collected from five centers, with ultrasound features suggestive of MGS. Only fetuses with a confirmed diagnosis of MGS were finally included. Analysis included a detailed evaluation of the sonographic findings and comparison with pathological follow-up.
Seventeen cases met the pathological criteria for a diagnosis of MGS and were included in the study. In all cases, a typical sonographic pattern was seen: the kidneys were enlarged (mean, + 4.8 SD) and showed unusual corticomedullary differentiation, occurring as early as the first trimester. In most cases, the medullary areas appeared excessively large and mottled due to the presence of multiple small cysts.
The kidneys of fetuses with MGS are enlarged, cystic and have unusual corticomedullary differentiation. These features can be observed as early as the first and early second trimesters.
确定梅克尔-格鲁伯综合征（MGS）胎儿肾脏出现的特定超声图像模式。
这是一项对从五个中心收集的30例具有提示MGS超声特征病例的回顾性分析。最终仅纳入确诊为MGS的胎儿。分析包括对超声检查结果的详细评估以及与病理随访结果的比较。
17例符合MGS诊断的病理标准并纳入研究。所有病例均可见典型的超声图像模式：肾脏增大（平均，+4.8标准差），并显示出异常的皮髓质分化，最早在孕早期出现。在大多数情况下，由于存在多个小囊肿，髓质区域显得过大且呈斑驳状。
MGS胎儿的肾脏增大、呈囊性且具有异常的皮髓质分化。这些特征最早可在孕早期和孕中期早期观察到。
