Human Malformed Perinatal Anthropological Crania Contribute to New Insight in the Extension of Bone Malformations in Cranial Development.

IF 0.7 4区医学 Q4 PATHOLOGY

Fetal and Pediatric Pathology Pub Date : 2024-07-01 Epub Date: 2024-05-30 DOI:10.1080/15513815.2024.2338434

Inger Kjær, Amberley Marin, Ion Meyer

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引用次数: 0

Abstract

Introduction: We describe five abnormal crania which may provide more diagnostic data for assessment of abnormal crania in newborns.

Methods: Five malformed perinatal crania from the Saxtorphian Collection are described using published prenatal abnormal cranial development criteria. These malformations were compared to normal cranial development arising from the migration of neural crest cells. Visual and photographic investigations were performed.

Results: The malformed crania were occipital encephalocele, holoprosencephaly, anencephaly, and two without a recognizable diagnosis. The anthropological crania were malformed in the same regions as formerly observed in fetal pathology. These regions were comparable to fields formed during normal cell migration from the neural crest. This has seemingly not previously been demonstrated. One undiagnosed cranium may represent a Treacher Collins syndrome (Case 3). The other undiagnosed cranium (Case 4) could be from a scaphocephalic specimen.

Discussion: Sharp borderlines between malformed and non-malformed regions in cranial syndromes may enable improvement in diagnostics.

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人类畸形围产期人类学颅骨为骨骼畸形在颅骨发育中的扩展提供了新的见解。

介绍：我们描述了五个畸形颅骨，这些畸形颅骨可为评估新生儿畸形颅骨提供更多诊断数据：方法：根据已公布的产前异常颅骨发育标准，描述了萨克斯托菲收藏的五个畸形围产期颅骨。将这些畸形与神经嵴细胞迁移引起的正常颅骨发育进行比较。结果：畸形颅骨包括枕头畸形、全颅畸形、无脑畸形，还有两例没有明确诊断。人类学畸形颅骨的畸形区域与以前在胎儿病理学中观察到的相同。这些区域与神经嵴正常细胞迁移过程中形成的区域相当。这似乎是以前从未证实过的。其中一个未确诊的颅骨可能是特雷撤-科林斯综合征（病例 3）。另一个未确诊的颅骨（病例 4）可能来自于一个颅呙标本：讨论：颅骨综合征中畸形区和非畸形区之间的清晰边界可改进诊断。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Fetal and Pediatric Pathology 医学-病理学

CiteScore

3.00

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Fetal and Pediatric Pathology is an established bimonthly international journal that publishes data on diseases of the developing embryo, newborns, children, and adolescents. The journal publishes original and review articles and reportable case reports. The expanded scope of the journal encompasses molecular basis of genetic disorders; molecular basis of diseases that lead to implantation failures; molecular basis of abnormal placentation; placentology and molecular basis of habitual abortion; intrauterine development and molecular basis of embryonic death; pathogenisis and etiologic factors involved in sudden infant death syndrome; the underlying molecular basis, and pathogenesis of diseases that lead to morbidity and mortality in newborns; prenatal, perinatal, and pediatric diseases and molecular basis of diseases of childhood including solid tumors and tumors of the hematopoietic system; and experimental and molecular pathology.