Christianson A L, Kruger H, Dini L
Department of Human Genetics and Developmental Biology, University of Pretoria, Republic of South Africa.
Am J Med Genet. 1994 May 15;51(1):32-4. doi: 10.1002/ajmg.1320510108.
We describe a male fetus with a combination of defects, including severe mandibulofacial dysostosis, holoprosencephaly, upper limb deficiency, and microgastria. These abnormalities indicate a severe defect of gastrulation/blastogenesis predominantly affecting cephalad structures. This combination of anomalies has to our knowledge not previously been described. We propose that the anomaly pattern represents either a blastogenesis-related association, or a microgastria-limb deficiency polytopic field defect.
我们描述了一名患有多种缺陷的男性胎儿，这些缺陷包括严重的下颌面骨发育不全、前脑无裂畸形、上肢缺如和小胃畸形。这些异常表明原肠形成/胚泡形成存在严重缺陷，主要影响头部结构。据我们所知，这种异常组合此前尚未有过描述。我们认为，这种异常模式要么代表一种与胚泡形成相关的关联，要么代表一种小胃畸形-肢体缺如多部位场缺陷。
