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一名8周大胎儿的前脑无裂畸形并独眼畸形(独眼症)。

Holoprosencephalic synophthalmia (cyclopia) in an 8 week fetus.

作者信息

Sperber G H, Johnson E S, Honoré L, Machin G A

出版信息

J Craniofac Genet Dev Biol. 1987;7(1):7-18.

PMID:3597723
Abstract

Histopathological examination of an 8-week-old human cyclopic fetus revealed holoprosencephaly, synophthalmia, and malformed midfacial features. The telencephalon was undivided and projected a single median optic stalk partially subdivided into optic vesicles contained in a single orbit. Aberrant midfacial ossification underlay arrhinia and uncleft lips and palate. Maxillary anodontia and mandibular hypodontia prevailed. Postcranial normality was disturbed by pedal postaxial hexadactyly, suggesting trisomy 13. The exceptionally young age of the specimen distinguishes its detailed analysis from the majority of older cyclopic specimens previously reported.

摘要

对一名8周大的人类独眼胎儿进行的组织病理学检查显示,存在前脑无裂畸形、独眼畸形和中面部特征畸形。端脑未分开,伸出一个单一的正中视茎,部分分成位于单个眼眶内的视泡。中面部骨化异常是无鼻和唇腭裂的基础。上颌无牙症和下颌牙发育不全很常见。颅后正常情况因足轴后多指畸形而受到干扰,提示13三体综合征。该标本异常年轻的年龄使其详细分析有别于先前报道的大多数年龄较大的独眼标本。

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