RESUMEN
We report an autopsy case of a male fetus with Adams-Oliver syndrome. His mother was a healthy, 31-year-old woman and her family and past histories were unremarkable. Therapeutic termination was done at 28() weeks gestational age due to oligohydramnios detected by antenatal ultrasonography. Chromosomal study revealed normal karyotype. On autopsy, characteristic transverse terminal defect of four extremities was found. Both feet were short and broad. All toes were rudimentary with no nails and fingers were irregularly short. On infantogram, all toe-bones were stubby and rudimentary. The middle and terminal phalanges of 2nd, 3rd +ACY- 5th fingers and the terminal phalange of 4th finger on the right hand were absent. The middle and terminal phalanges of 2nd +ACY- 5th fingers and terminal phalange of 3rd finger were defected on the left hand. His abnormalities were consistent with features of Adams-Oliver syndrome, which has not been reported in Korea.
Asunto(s)
Adulto , Femenino , Humanos , Masculino , Embarazo , Anomalías Múltiples , Anomalías Múltiples/embriología , Aborto Habitual , Aborto Terapéutico , Autopsia , Enfermedades Fetales , Deformidades Congénitas del Pie/diagnóstico por imagen , Deformidades Congénitas del Pie , Deformidades Congénitas del Pie/embriología , Genes Dominantes , Deformidades Congénitas de la Mano/diagnóstico por imagen , Deformidades Congénitas de la Mano , Deformidades Congénitas de la Mano/embriología , Oligohidramnios , Cuero Cabelludo/embriología , Cuero Cabelludo , Anomalías Cutáneas , Anomalías Cutáneas/embriología , SíndromeRESUMEN
We report an autopsy case of a male fetus with Adams-Oliver syndrome. His mother was a healthy, 31-year-old woman and her family and past histories were unremarkable. Therapeutic termination was done at 28() weeks gestational age due to oligohydramnios detected by antenatal ultrasonography. Chromosomal study revealed normal karyotype. On autopsy, characteristic transverse terminal defect of four extremities was found. Both feet were short and broad. All toes were rudimentary with no nails and fingers were irregularly short. On infantogram, all toe-bones were stubby and rudimentary. The middle and terminal phalanges of 2nd, 3rd +ACY- 5th fingers and the terminal phalange of 4th finger on the right hand were absent. The middle and terminal phalanges of 2nd +ACY- 5th fingers and terminal phalange of 3rd finger were defected on the left hand. His abnormalities were consistent with features of Adams-Oliver syndrome, which has not been reported in Korea.