Patau Syndrome

Excerpt

Trisomy 13 was first described as the cause of a distinct clinical syndrome in 1960 by Dr. Patau et al. The clinical syndrome was initially characterized as "cerebral defects, apparent anophthalmia, cleft palate, hare lip, simian creases, trigger thumbs, polydactyly, and capillary hemangiomata."

Patau syndrome is diagnosed either prenatally or at birth. Advanced maternal age is a risk for trisomy 13 due to an increased frequency of nondisjunction. However, 20% of Patau syndrome can result from an unbalanced translocation and rarely by mosaicism. Multiple large studies have detailed the poor prognosis of patients with Patau syndrome. Median survival is 7 to 10 days in live-born patients, and 90% live for less than 1 year. Recently, there have been reports of several cases of longer survival due to aggressive medical therapy. Long surviving patients with Patau syndrome are less likely to have cerebral and cardiovascular malformations, typically the primary cause of the poor prognosis with Patau syndrome. Even in these cases of increased survival, severe disability remains the expectation of these patients.