Résumé
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.
Sujets)
Adulte , Femelle , Humains , Mâle , Grossesse , Malformations multiples , Malformations multiples/embryologie , Avortements à répétition , Avortement thérapeutique , Autopsie , Maladies foetales , Anomalies morphologiques congénitales du pied/imagerie diagnostique , Anomalies morphologiques congénitales du pied , Anomalies morphologiques congénitales du pied/embryologie , Gènes dominants , Anomalies morphologiques congénitales de la main/imagerie diagnostique , Anomalies morphologiques congénitales de la main , Anomalies morphologiques congénitales de la main/embryologie , Oligoamnios , Cuir chevelu/embryologie , Cuir chevelu , Malformations cutanées , Malformations cutanées/embryologie , SyndromeRésumé
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.