An immunohistochemical study of thanatophoric dysplasia type 1 after fetus autopsy examination

IF 1.3 4区 医学 Q3 PEDIATRICS Congenital Anomalies Pub Date : 2025-01-08 DOI:10.1111/cga.70004
Ioanna Abba Deka, Paschalis Theotokis, Maria Eleni Manthou, Angeliki Mathioudi, Evangelia Athanasiou, Soultana Meditskou
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Abstract

The current case report presents the postmortem examination findings of a 17-week-old female fetus displaying thanatophoric dysplasia type 1 (TD-1) due to a known fibroblast growth factor receptor 3 (FGFR3) gene mutation. Gross and X-ray examination revealed significant abnormalities, including skeletal malformations with prominent TD-1 femur curvature. Microscopical evaluation indicated inadequate histological growth for the gestational age, with specific organ immaturity noted in multiple hematoxylin and eosin sections from internal organs, bone from epiphyses and diaphyses levels. Immunohistochemical analysis was conducted using specific markers, such as S100, CD34, CD117, glycophorin-C, and myeloperoxidase, to identify various hematopoietic and mesenchymal cell types. Furthermore, this report underscores the often-overlooked aspect of fetal hematopoiesis in cases diagnosed with TD-1, shedding light on the development of hematopoietic cells and their markers in various tissues, with a particular emphasis on the investigation of bone marrow foci in areas with incipient or no apparent ossification. Immunohistochemical identification of hematopoiesis also served as an indirect way to identify areas of incipient or abnormal ossification.

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胎儿尸检后1型嗜盐性发育不良的免疫组织化学研究。
目前的病例报告提出了一个17周大的女性胎儿的尸检结果,由于已知的成纤维细胞生长因子受体3 (FGFR3)基因突变,显示出1型死亡细胞生长发育不良(TD-1)。大体和x线检查显示明显异常,包括骨骼畸形和突出的TD-1股骨弯曲。显微镜检查显示胎龄组织学发育不充分,在内脏、骨骺和骨干水平的多个苏木精和伊红切片中发现了特定的器官不成熟。免疫组织化学分析使用特异性标记物,如S100、CD34、CD117、糖蛋白- c和髓过氧化物酶,以识别各种造血细胞和间充质细胞类型。此外,本报告强调了在诊断为TD-1的病例中胎儿造血功能经常被忽视的方面,揭示了造血细胞及其标记物在各种组织中的发育,特别强调了对早期或无明显骨化区域的骨髓病灶的调查。造血的免疫组织化学鉴定也可以作为一种间接的方法来识别早期或异常骨化的区域。
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来源期刊
Congenital Anomalies
Congenital Anomalies PEDIATRICS-
自引率
0.00%
发文量
49
审稿时长
>12 weeks
期刊介绍: Congenital Anomalies is the official English language journal of the Japanese Teratology Society, and publishes original articles in laboratory as well as clinical research in all areas of abnormal development and related fields, from all over the world. Although contributions by members of the teratology societies affiliated with The International Federation of Teratology Societies are given priority, contributions from non-members are welcomed.
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