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Paediatria Croatica, Vol. 60 No. 1, 2016.

Case report

Patau syndrome

Vida Čulić orcid id orcid.org/0000-0003-1352-4914
Branka Polić
Silvana Mišković
Slavica Dragišić Ivulić
Vanda Žitko
Tatijana Šipalo
Jasminka Pavelić

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Abstract

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.

Keywords

Patau syndrome; life expectancy; chromosomal anomalies

Hrčak ID:

156813

URI

https://hrcak.srce.hr/156813

Publication date:

25.3.2016.

Article data in other languages: croatian

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