Trisomy 13 with the absence of gallbladder.

Trisomy 13, also known as Patau syndrome, is a severe condition first described by Patau in 1960. Eighty-two percent of the patients die within the 1 month and 85 percent within the 1 year. The frequency of the syndrome is 1:3000-8000 live births. It is the third most frequent trisomy after trisomy 21 and 18 at birth. Although the features of trisomy 13 can vary, in general the syndrome is associated with numerous malformations, including holoprocencephaly, microcephaly, scalp defects, ocular abnormalities such as anophthalmia, micrognathia, and colobomata of the iris, cleft lip and palate, low-set ears, dysplastic auricles, micrognathia, polydactyly, overlapping fingers, congenital heart defects, omphalocele, as well as renal and genital abnormalities. Trisomy 13 is also associated with a high rate of spontaneous abortion and intrauterine death. To the best of our knowledge, this is the first presentation that is related to absence of gallbladder (GB) in case with trisomy 13.