Oostra R J, Baljet B, Hennekam R C
Department of Anatomy and Embryology, Academic Medical Center, University of Amsterdam, The Netherlands.
Am J Med Genet. 1998 Oct 30;80(1):60-73. doi: 10.1002/(sici)1096-8628(19981102)80:1<60::aid-ajmg9>3.0.co;2-i.
The Museum Vrolik collection of the Department of Anatomy and Embryology of the 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 opinions. The original descriptions, as far as preserved, were compared with the clinical and additional findings. Based on the classification by closure site, proposed by Van Allen et al. [1993], the following closure defects of the neural tube were diagnosed in 107 specimens: craniorachischisis, holoacranium with partial rachischisis, faciocranioschisis, holoacranium, meroacranium, occipital cranioschisis, frontal encephalocele, parietal encephalocele, occipital encephalocele, occipital encephalocele with rachischisis, occipito-cervical encephalocele, thoracolumbar spina bifida, lumbosacral spina bifida, occult sacral dysraphism, and sacrococcygeal dysgenesis. Furthermore, we diagnosed three conditions that did not appear in the aforementioned classification; we named these conditions craniorachischisis totalis, occipital craniorachischisis, and thoracolumbosacral spina bifida. The results of our study are in line with the assumption that particularly occipito-cervical neural tube defects are associated with concomitant anomalies and are more common in females. The results support the idea of multisite closure of the human neural tube.
阿姆斯特丹大学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）及其子威廉·弗罗利克（1801 - 1863）创立，包含5000多件人类和动物解剖学、胚胎学、病理学及先天性畸形标本。最近，对包含360件标本的先天性畸形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。将留存的原始描述与临床及其他发现进行了比较。根据范·艾伦等人[1993年]提出的按闭合部位分类法，在107件标本中诊断出以下神经管闭合缺陷：无脑脊髓裂、部分脊柱裂的全前脑、面颅骨裂、全前脑、半叶前脑、枕部颅骨裂、额部脑膨出、顶叶脑膨出、枕部脑膨出、伴有脊柱裂的枕部脑膨出、枕颈脑膨出、胸腰段脊柱裂、腰骶段脊柱裂、隐匿性骶部脊柱裂及骶尾发育不全。此外，我们诊断出三种未出现在上述分类中的情况；我们将这些情况命名为完全性无脑脊髓裂、枕部无脑脊髓裂及胸腰骶段脊柱裂。我们的研究结果符合以下假设，即特别是枕颈神经管缺陷与并发畸形相关且在女性中更常见。这些结果支持了人类神经管多部位闭合的观点。
