与无脑儿和脊柱裂头畸形相关的先天性畸形。
Congenital malformations associated with anencephaly and iniencephaly.
作者信息
David T J, Nixon A
出版信息
J Med Genet. 1976 Aug;13(4):263-5. doi: 10.1136/jmg.13.4.263.
Abstract
The necropsy reports of 294 cases of anencephaly and 50 cases of iniencephaly have been examined, and a tubulated list of associated malformations produced. Cases were divided by sex and the presence or absence of spina bifida. Forty-one per cent of the series had other malformations, and other malformations were more common in those cases with spina bifida than in those without. The most frequent single malformations were: hydronephrosis (8%), cleft palate (8%), diaphragmatic hernia (5%), exomphalos (5%), hare lip (4%), and horseshoe kidney (4%). It is suggested that the presence of other malformations in anencephaly or iniencephaly may imply some aetiological heterogeneity.
摘要
对294例无脑儿和50例脊柱裂畸形儿的尸检报告进行了检查，并列出了相关畸形的详细清单。病例按性别以及是否存在脊柱裂进行了分类。该系列病例中有41%伴有其他畸形，且脊柱裂患儿出现其他畸形的情况比无脊柱裂患儿更为常见。最常见的单一畸形为：肾积水（8%）、腭裂（8%）、膈疝（5%）、脐膨出（5%）、唇裂（4%）和马蹄肾（4%）。有人提出，无脑儿或脊柱裂畸形儿中存在其他畸形可能意味着病因存在某种异质性。
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本文引用的文献
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