Lurie I W, Kirillova I A, Nedzved M K, Krapiva G A
Byelorussian Institute of Hereditary Disease, Minsk.
Genet Couns. 1992;3(3):127-32.
We report a fetus with an association of cyclopia without proboscis, aprosencephaly and agnathia. Analysing literature cases and the case presented here we can suggest that: 1) not only alobar holoprosencephaly but also more severe forebrain anomalies can be a brain equivalent of cyclopia; 2) aprosencephaly can be viewed as the earliest known variant of prosencephalic series; and 3) "agnathia-holoprosencephaly" association is etiologically heterogeneous.
我们报告了一例患有无鼻独眼畸形、前脑无裂畸形和无下颌畸形的胎儿。通过分析文献中的病例以及此处呈现的病例,我们可以提出:1)不仅叶状全前脑畸形,而且更严重的前脑异常都可能是独眼畸形的脑部对应表现;2)前脑无裂畸形可被视为已知最早的前脑系列变体;3)“无下颌畸形 - 全前脑畸形”关联在病因学上是异质性的。