Patau syndrome

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
Category: Case report
Volume: Vol. 60, No 1, january - march 2016
Authors: V. Čulić, B. Polić, S. Mišković, S. Dragišić Ivulić, V. Zitko, T. Sipalo, J. Pavelić
Reference work: Paediatr Croat. 2016;60:27-30
DOI: http://dx.doi.org/10.13112/PC.2016.5

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