Bilateral Cleft Palate and Holotelencephaly with Multiple other Anomalies Consistent with 13 Trisomy Syndrome (An Autopsy Case)

Abstract

An autopsy of a still-born infant to a 26 year old Korean woman showed all characteristic pathological features described in 13 trisomy syndrome. Semilobar holotelencencephaly, bilateral cleft lip and cleft palate, microcephaly, polydactyly, congenital heart disease, coloboma of iris, and bicornuate uterus were present. In addition intrasplenic pancreatic heterotopia and a typical tetralogy of Fallot were seen in this case. Although chromosome study failed because of inadequate specimen from a dead born infant, the findings seen in this case are fairly consistent with 13 trisomy syndrome. (Authors wish to express their thanks to Dr. Nan Hee Kim, Dr. Kim's Obst. & Gyn. Clinic in Seoul for bringing this case to our attention.)