Polish Journal of Paediatrics
en POLSKI
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ISSN: 0031-3939
Pediatria Polska - Polish Journal of Paediatrics
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Case report

Diagnostic difficulties in a patient with precocious puberty and short stature observed for Kabuki syndrome

Magdalena Kwiatkowska
1
,
Anna Mandecka
1
,
Wiktoria Kempińska
2
,
Ewa Błaszczyk
2
,
Aneta Gawlik-Starzyk
2

  1. Students’ Scientific Society, Department of Pediatrics and Pediatric Endocrinology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland
  2. Department of Pediatrics and Pediatric Endocrinology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland
Pediatr Pol 2025; 100 (4)
DOI: https://doi.org/10.5114/polp.2025.155305
Online publish date: 2025/10/15
Article file
- Diagnostic difficulties.pdf  [0.43 MB]
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7. Li Z, Ning Z. Neonatal Kabuki syndrome caused by KMT2D mutation: a case report. Medicine (Baltimore) 2023; 102: e36681. DOI: 10.1097/MD.0000000000036681.
8. Niklasson A, Albertsson-Wikland K. Continuous growth reference from 24th week of gestation to 24 months by gender. BMC Pediatr 2008; 8: 8. DOI: 10.1186/1471-2431-8-8.
9. https://www.orpha.net/pdfs/data/patho/Pro/en/KabukiGuidelines2011.pdf (Accessed: 27.01.2025).
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11. Thomas IT, Gaitantzis YA, Frias JL. Palpebral fissure length from 29 weeks gestation to 14 years. J Pediatr 1987; 111: 267-268.
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13. Barry KK, Tsaparlis M, Hoffman D, et al. From genotype to phenotype – a review of Kabuki syndrome. Genes (Basel) 2022; 13: 1761. DOI: 10.3390/genes13101761.
14. Schott DA, Gerver WJM, Stumpel CTRM. Growth hormone the­rapy in children with Kabuki syndrome: 1-year treatment results. Horm Res Paediatr 2017; 88: 258-264.
15. Latronico AC, Brito VN, Carel JC. Causes, diagnosis, and treatment of central precocious puberty. Lancet Diabetes Endocrinol 2016; 4: 265-274.
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17. https://www.gov.pl/web/zdrowie/obwieszczenie-ministra-zdrowia- z-dnia-18-grudnia-2024-r-w-sprawie-wykazu-refundowanych- lekow-srodkow-spozywczych-specjalnego-przeznaczenia-zywieniowego-oraz-wyrobow-medycznych-na-1-stycznia-2025-r (Accessed: 17.05.2025).
18. Moon JE, Lee SJ, Ko CW. A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report. BMC Med Genet 2018; 19: 102. DOI: 10.1186/s12881-018-0606-9.
19. Vargas-Uricoechea H, Nogueira JP, Pinzón-Fernández MV, Schwarzstein D. The usefulness of thyroid antibodies in the diagnostic approach to autoimmune thyroid disease. Antibodies (Basel) 2023; 12: 48. DOI: 10.3390/antib12030048.
20. Ming JE, Russell KL, McDonald-McGinn DM, Zackai EH. Autoimmune disorders in Kabuki syndrome. Am J Med Genet A 2005; 132A: 260-262.
21. So PL, Luk HM, Yu KPT, et al. Clinical and molecular characterization study of Chinese Kabuki syndrome in Hong Kong. Am J Med Genet A 2021; 185: 675-686.
22. Zenker M, Mohnike K, Palm K. Syndromic forms of congenital hyperinsulinism. Front Endocrinol (Lausanne) 2023; 14: 1013874. DOI: 10.3389/fendo.2023.1013874.
23. Rapp T, Kalinousky AJ, Johnson J, et al. Sleep disturbance is a common feature of Kabuki syndrome. Am J Med Genet A 2022; 188: 3041-3048.
Copyright: © 2025 Polish Society of Paediatrics. This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0) License (http://creativecommons.org/licenses/by-nc-sa/4.0/), allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material, provided the original work is properly cited and states its license.
  
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