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18号环状染色体与腭裂相关:病例报告及临床症状的综合文献综述

Ring 18 chromosome associated with cleft palate: case report and comprehensive literature review of clinical symptoms.

作者信息

Matyskova Dominika, Richtrova Michaela, Novotna Alzbeta, Koskova Olga

机构信息

Department of Burns and Plastic Surgery, University Hospital Brno, Jihlavska 20, Brno, 62500, Czech Republic.

Faculty of Medicine, Masaryk University, Brno, Czech Republic.

出版信息

Orphanet J Rare Dis. 2024 Dec 20;19(1):478. doi: 10.1186/s13023-024-03505-2.

Abstract

BACKGROUND

Ring 18 chromosome is a rare chromosomal aberration associated with a wide range of symptoms affecting all organ systems. One possible symptom associated with this condition is an orofacial cleft. However, to date, there are very few reported cases where the cleft has been surgically treated.

CASE DESCRIPTION

In our case study, we present a female patient with Ring 18 chromosome who underwent cleft palate surgery at 14 months of age. Subsequently, a reoperation of the palate was necessary due to wound dehiscence. For the secondary reconstruction of the palate, the acellular dermal matrix (ADM) MatriDerm® was used to improve healing. The cleft palate surgery progressively improved her ability to take in food, allowing a transition from nasogastric tube feeding to oral intake.

RESULTS

This is only the fourth reported case of a child with Ring 18 chromosome undergoing surgical correction of an orofacial cleft. Additionally, it is one of the first cases where an ADM MatriDerm® was used in the surgical correction of a cleft palate. In this study, we also present a comprehensive literature review, providing an overview of the various symptoms associated with this syndrome.

CONCLUSION

Cleft palate surgery had a very positive effect on improving food intake in the patient with Ring 18 chromosome. The use of an acellular dermal matrix during the secondary cleft palate surgery led to improved healing and a good outcome.

摘要

背景

18号环状染色体是一种罕见的染色体畸变,与影响所有器官系统的广泛症状相关。与这种情况相关的一种可能症状是口面部裂隙。然而,迄今为止,很少有报道称对这种裂隙进行了手术治疗。

病例描述

在我们的病例研究中,我们介绍了一名患有18号环状染色体的女性患者,她在14个月大时接受了腭裂手术。随后,由于伤口裂开,需要进行再次腭裂手术。对于腭裂的二期重建,使用了脱细胞真皮基质(ADM)MatriDerm®来促进愈合。腭裂手术逐渐改善了她的进食能力,使其从鼻胃管喂养过渡到经口进食。

结果

这是第四例报道的患有18号环状染色体的儿童接受口面部裂隙手术矫正的病例。此外,这也是首批在腭裂手术矫正中使用ADM MatriDerm®的病例之一。在本研究中,我们还进行了全面的文献综述,概述了与该综合征相关的各种症状。

结论

腭裂手术对改善18号环状染色体患者的食物摄入有非常积极的影响。在二期腭裂手术中使用脱细胞真皮基质可促进愈合并取得良好效果。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e9f5/11662835/e022687fd1f6/13023_2024_3505_Fig1_HTML.jpg

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