Pediatria Polska
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Pediatria Polska - Polish Journal of Paediatrics
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Opis przypadku

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)
Data publikacji online: 2025/10/15
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2. Schott DA, Blok MJ, Gerver WJM, et al. Growth pattern in Kabuki syndrome with a KMT2D mutation. Am J Med Genet A 2016; 170: 3172-3179.
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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.
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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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