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单侧无眼球畸形与先天性额部颅骨裂伴硬膜外神经胶质异位症:对一种可能的新畸形谱系的新见解。

Unilateral Anophthalmia and Congenital Frontal Cranioschisis Associated with Extradural Neuroglial Heterotopia: new Insights into a Possible New Malformative Spectrum.

作者信息

Arredondo Montero Javier, Bronte Anaut Mónica, Bardají Pascual Carlos

机构信息

Pediatric Surgery Department, Hospital Universitario de Navarra, Pamplona, Spain.

Pathology Department, Hospital Universitario de Navarra, Pamplona, Spain.

出版信息

Fetal Pediatr Pathol. 2023 Apr;42(2):275-280. doi: 10.1080/15513815.2022.2086330. Epub 2022 Jun 7.

Abstract

Neuroglial heterotopia, characterized by mature -neuroglial tissue outside the central nervous system, has not been previously associated with cranioschisis. A 4-year-old female patient, with left congenital anophthalmia, had a nasofrontal neuroglial heterotopia protruding through an ossification defect. Nasofrontal cranioschisis may be associated with neuroglial heterotopias. The combination of anophthalmia and neuroglial heterotopia, previously described only once in the literature, may be part of a broader malformation spectrum that has not been properly characterized to date.

摘要

神经胶质异位症的特征是中枢神经系统外存在成熟的神经胶质组织,此前尚未发现其与颅骨裂相关。一名4岁先天性左眼球缺失的女性患者,其鼻额部神经胶质异位症通过骨化缺损处突出。鼻额部颅骨裂可能与神经胶质异位症有关。文献中仅曾有一次描述过眼球缺失与神经胶质异位症的组合,这可能是迄今尚未得到充分界定的更广泛畸形谱系的一部分。

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