端脑小头畸形

Atelencephalic microcephaly.

作者信息

Garcia C A, Duncan C

出版信息

Dev Med Child Neurol. 1977 Apr;19(2):227-32. doi: 10.1111/j.1469-8749.1977.tb07973.x.

DOI:10.1111/j.1469-8749.1977.tb07973.x

Abstract

A two-month-old child born with marked microcephaly (head circumference 17cm) was found at autopsy to have gliomesodermal tissue replacing the telencephalon (atelencephaly). This finding, together with genital anomalies and hypoplasia of the extremities, suggests arrest at the fifth week of fetal life. The clinical and pathological features are described and the pathogenesis is discussed.

摘要

一名出生时患有明显小头畸形（头围17厘米）的两个月大婴儿在尸检时发现，其端脑被神经胶质中胚层组织取代（无脑畸形）。这一发现，连同生殖器异常和四肢发育不全，提示胎儿发育在孕龄第五周时出现停滞。本文描述了其临床和病理特征并探讨了发病机制。