Perioperative Management of the Patient With Chromosome 6p Duplication: A Case Report And a Narrative Review of Literature

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F25%3A00081629" target="_blank" >RIV/65269705:_____/25:00081629 - isvavai.cz</a>
Alternative codes found
RIV/00216224:14110/25:00141053
Result on the web
<a href="https://link.springer.com/article/10.1007/s44411-024-00012-5" target="_blank" >https://link.springer.com/article/10.1007/s44411-024-00012-5</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/s44411-024-00012-5" target="_blank" >10.1007/s44411-024-00012-5</a>

Result language
angličtina
Original language name
Perioperative Management of the Patient With Chromosome 6p Duplication: A Case Report And a Narrative Review of Literature
Original language description
Chromosome 6p duplication syndrome represents a rare genetic disorder. About 50 patients have been described till now. The syndrome is also called trisomy 6p, and it is clinically characterized by short stature with microcephaly, mental retardation, congenital heart defects, or kidney tract anomalies. Epileptic seizures and spine deviations have also been described in a few children. Perioperative management of patients with chromosome 6p duplication can be challenging for all healthcare providers due to the multiorgan disability of the patients. To our knowledge, we report the first case of comprehensive perioperative management of patients with chromosome 6p duplication. Our case report is about a 9-year-old girl scheduled for scoliosis surgery. It discusses individual steps in the preoperative examination, surgery, and postoperative care, including preventing possible complications. This publication aims to show possible options for comprehensive perioperative management of patients with extremely rare syndrome because there are no published studies about perioperative management. Understanding the 6p duplication syndrome may improve the patient's outcome in the perioperative period.
Czech name
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Czech description
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Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30218 - General and internal medicine

Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2025
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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