Patau syndrome

Autor(i)

  • Vida Čulić Departement of Pediatric Hematology, Oncology, Immunology and Medical Genetics, Split University Hospital Center
  • Branka Polić Department of Intensive Care and Therapy, Clinical Department of Pediatrics, Split University Hospital Center 3 University of Split, School of Medicine
  • Silvana Mišković University of Split, School of Medicine
  • Slavica Dragišić Ivulić Department of Pulmonology and Allergology, Split University Hospital Center
  • Vanda Zitko Department of Pediatric Gastroenterology and Hepatology, Clinical Department of Pediatrics, Split University Hospital Center, Split
  • Tatijana Sipalo Departement of Pediatric Hematology, Oncology, Immunology and Medical Genetics, Split University Hospital Center
  • Jasminka Pavelić Laboratory of Molecular Oncology, Ruđer Bošković Institute, Zagreb, Croatia

DOI:

https://doi.org/10.13112/PC.2016.5

Ključne riječi:

Patau syndrome, life expectancy, chromosomal anomalies

Sažetak

Genetic syndromes caused by chromosomal aberrations involve a recognizable pattern of multiple congenital anomalies with increased neonatal and infant mortality, making care challenging for the family, primary care practitioners, and specialists. About 28% of children born with trisomy 13 die during the fi rst week of life. The median life expectancy is about 2.5 days. We present a 12-year-old girl, the longest living patient with Patau syndrome in Croatia, followed-up from the birth until the age of 12 years. The conventional nonintervention approach has been revised and we suggest changing the traditional view of the condition.

Preuzimanja

Objavljeno

2016-03-30

Broj časopisa

Rubrika

Prikaz slučaja

Kako citirati

Čulić, V., Polić, B., Mišković, S., Ivulić, S. D., Zitko, V., Sipalo, T., & Pavelić, J. (2016). Patau syndrome. Paediatria Croatica, 60(1), 27-30. https://doi.org/10.13112/PC.2016.5

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