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荷兰阿姆斯特丹弗罗利克博物馆畸形学藏品中的先天性异常。III:原发性场缺陷、序列征及其他复杂异常。

Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. III: primary field defects, sequences, and other complex anomalies.

作者信息

Oostra R J, Baljet B, Verbeeten B W, Hennekam R C

机构信息

Department of Anatomy and Embryology, Academic Medical Center, University of Amsterdam, The Netherlands.

出版信息

Am J Med Genet. 1998 Oct 30;80(1):46-59. doi: 10.1002/(sici)1096-8628(19981102)80:1<46::aid-ajmg8>3.0.co;2-l.

DOI:10.1002/(sici)1096-8628(19981102)80:1<46::aid-ajmg8>3.0.co;2-l
PMID:9800911
Abstract

The Museum Vrolik collection of the Department of Anatomy and Embryology of the Academic Medical Center, University of Amsterdam, founded by Gerardus Vrolik (1775-1859) and his son Willem Vrolik (1801-1863), consists of more than 5,000 specimens of human and animal anatomy, embryology, pathology, and congenital anomalies. Recently, the collection of congenital anomalies, comprising 360 specimens, was recatalogued and redescribed according to contemporary morphogenetic views. The original descriptions, if preserved, were compared with the clinical, radiographical, and magnetic resonance imaging findings. In 120 specimens the following midline anomalies, primary field defects, and sequences were diagnosed: holoprosencephaly sequence; aprosencephaly/atelencephaly; cleft lip; Pierre Robin sequence; omphalocele; diaphragmatic hernia; ectopic heart; bladder exstrophy; cloacal exstrophy; caudal dysgenesis; prune belly sequence; sirenomelia; fetal akinesia sequence; and disruption sequences. Polytopic field defects and associations were diagnosed in 25 specimens. We discuss the opinions of Gerardus and Willem Vrolik, who tried to find reasonable explanations for the dysmorphogenetic entities they investigated, rather than accepting the traditional superstitions.

摘要

阿姆斯特丹大学学术医学中心解剖学与胚胎学系的弗罗利克博物馆藏品由杰勒杜斯·弗罗利克(1775 - 1859)和他的儿子威廉·弗罗利克(1801 - 1863)创立,包含5000多件人类和动物解剖学、胚胎学、病理学及先天性异常的标本。最近,对包含360件标本的先天性异常藏品按照当代形态发生学观点进行了重新编目和重新描述。将保存下来的原始描述与临床、放射学及磁共振成像结果进行了比较。在120件标本中诊断出以下中线异常、原基场缺陷和序列:前脑无裂序列;无脑畸形/无叶脑畸形;唇裂;皮埃尔·罗宾序列;脐膨出;膈疝;异位心;膀胱外翻;泄殖腔外翻;尾椎发育不全;梅干腹序列;美人鱼序列;胎儿运动不能序列;以及破坏序列。在25件标本中诊断出多部位场缺陷和关联。我们讨论了杰勒杜斯和威廉·弗罗利克的观点,他们试图为所研究的畸形发生实体找到合理的解释,而非接受传统的迷信观念。

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Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. III: primary field defects, sequences, and other complex anomalies.荷兰阿姆斯特丹弗罗利克博物馆畸形学藏品中的先天性异常。III:原发性场缺陷、序列征及其他复杂异常。
Am J Med Genet. 1998 Oct 30;80(1):46-59. doi: 10.1002/(sici)1096-8628(19981102)80:1<46::aid-ajmg8>3.0.co;2-l.
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Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. IV: closure defects of the neural tube.荷兰阿姆斯特丹弗罗利克博物馆畸形学藏品中的先天性异常。IV:神经管闭合缺陷
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