Mosaic ring chromosome 18 in a Chinese child with epilepsy: a case report and review of the literature

Wang, Jing; Xiao, Ling; Wang, Junling; Ding, Zijin; Ni, Jie; Long, Xiaoyan

doi:10.1007/s10072-021-05143-z

Neurol Sci

2021

DOI: 10.1007/s10072-021-05143-z

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Mosaic ring chromosome 18 in a Chinese child with epilepsy: a case report and review of the literature

Jing Wang

Ling Xiao

Junling Wang

et al.

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2024

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

Matyskova,

Richtrova,

Novotna

et al. 2024

Orphanet J Rare Dis

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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.

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

Matyskova,

Richtrova,

Novotna

et al. 2024

Orphanet J Rare Dis

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Mosaic ring chromosome 18 in a Chinese child with epilepsy: a case report and review of the literature

Cited by 1 publication

References 34 publications

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

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

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