13三体胎儿前脑无裂畸形面部异常的微观研究。

Microscopic study of holoprosencephalic facial anomalies in trisomy 13 fetuses.

作者信息

Sperber G H, Honoré L H, Machin G A

机构信息

Department of Oral Biology, University of Alberta, Edmonton, Canada.

出版信息

Am J Med Genet. 1989 Apr;32(4):443-51. doi: 10.1002/ajmg.1320320402.

DOI:10.1002/ajmg.1320320402

PMID:2773983

Abstract

The cerebral and facial anatomy of four trisomy 13 fetuses was studied in order to delineate the varying degrees of expression of severity of holoprosencephaly. Fetal heads were serially sectioned and analyzed microscopically in the horizontal plane. Examples of cyclopia, cebocephaly, and a proposed new category, premaxillary dysgenesis, were studied. The last category represents the least severe end of the facial spectrum of holoprosencephaly in this series. In this condition, there are deficiencies or clefts within the premaxilla, in contrast to the usual site of clefting between the maxilla and the premaxilla. There is asymmetry of the defects in the anterior midface of all four cases.

摘要

对4例13三体胎儿的大脑和面部解剖结构进行了研究，以描绘全前脑畸形严重程度的不同表现程度。将胎儿头部连续切片，并在水平面上进行显微镜分析。研究了独眼畸形、鼻眼发育不全的例子，以及一个新提出的类别——上颌前发育不全。最后一个类别代表了该系列中全前脑畸形面部谱系中最不严重的一端。在这种情况下，上颌前骨内存在缺陷或裂隙，这与上颌骨和上颌前骨之间通常的裂隙部位不同。所有4例病例的前中面部缺陷均存在不对称性。