We report an autopsy case of a male fetus with Adams-Oliver syndrome, His m
other was a healthy, 31-year-old woman and her family and past histories we
re unremarkable. Therapeutic termination was done at 28(+6) weeks gestation
al age due to oligohydramnios detected by antenatal ultrasonography, Chromo
somal study revealed normal karyotype, On autopsy, characteristic transvers
e terminal defect of four extremities was found. Both feet were short and b
road. All toes were rudimentary with no nails and fingers were irregularly
short. On infantogram, all toe-bones were stubby and rudimentary. The middl
e and terminal phalanges of 2nd, 3rd & 5th fingers and the terminal phalang
e of 4th finger on the right hand were absent. The middle and terminal phal
anges of 2nd & 5th fingers and terminal phalange of 3rd finger were defecte
d on the left hand, His abnormalities were consistent with features of Adam
s-Oliver syndrome, which has not been reported in Korea.