Patau syndrome is a rare congenital disorder which was reported by Patau in 1960. The syndrome is caused by presence of an extra copy of chromosome 13. Trisomy 13 occurs with a frequency of about 1 in 10,000 livebirth. Associated symptoms and findings may vary in range and severity from case to case. However, many affected newborns have abnormalities of skull and facial region; cardiac, renal malformations; and/or other physical abnormalities. The lifespan of babies affected by the severe malformations are shortened. A newborn with multiple malformations characteristic for Trisomy 13 is presented in this case report.
Trisomy 13, abnormalities of facial region, cardiac malformations
Article Language: Turkish English