Delooz J, Moerman P, Van den Berghe K, Fryns J P
Centre for Human Genetics, University of Leuven, Belgium.
Genet Couns. 1992;3(2):91-3.
In this report we describe severe tetraphocomelia with complete femorotibial fusion in a second trimester male fetus. The association of severe tetraphocomelia-femorotibial synostosis has previously been reported in three patients as examples of a severe variant of the thrombocytopenia-absent radii (TAR) syndrome. In the present fetus no morphological abnormalities of the megakaryocytes were detected. This observation is not in favour of the hypothesis that abnormalities of the primordial megakaryocytes may be causally related with the pathogenesis of the limb malformations as present in this syndrome.
在本报告中，我们描述了一例孕中期男性胎儿患有严重四肢短小并伴有股骨胫骨完全融合的病例。此前曾有3例报告称严重四肢短小 - 股骨胫骨融合是血小板减少 - 桡骨缺失（TAR）综合征的一种严重变体。在当前这个胎儿中，未检测到巨核细胞的形态学异常。这一观察结果不支持以下假说：即原始巨核细胞的异常可能与该综合征中出现的肢体畸形的发病机制存在因果关系。
