An autopsy case of Adams-Oliver syndrome

Citation
Sy. Jun et al., An autopsy case of Adams-Oliver syndrome, J KOR MED S, 15(4), 2000, pp. 482-484
Citations number
10
Language
INGLESE
art.tipo
Article
Categorie Soggetti
General & Internal Medicine
Journal title
JOURNAL OF KOREAN MEDICAL SCIENCE
ISSN journal
1011-8934 → ACNP
Volume
15
Issue
4
Year of publication
2000
Pages
482 - 484
Database
ISI
SICI code
1011-8934(200008)15:4<482:AACOAS>2.0.ZU;2-O
Abstract
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.