J Korean Med Sci.  2000 Aug;15(4):482-484. 10.3346/jkms.2000.15.4.482.

An autopsy case of Adams-Oliver syndrome

• Jun SY
• Khang SK
• Park SH

• KMID: 1730652
• DOI: http://doi.org/10.3346/jkms.2000.15.4.482

Abstract

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.

Keyword

Adams-Oliver Syndrome; Transverse Terminal Defect of Phalanges

MeSH Terms

Abnormalities, Multiple/pathology+ACo-
Abnormalities, Multiple/embryology
Abortion, Habitual
Abortion, Therapeutic
Adult
Autopsy
Case Report
Female
Fetal Diseases/pathology+ACo-
Foot Deformities, Congenital/radiography
Foot Deformities, Congenital/pathology+ACo-
Foot Deformities, Congenital/embryology
Genes, Dominant
Hand Deformities, Congenital/radiography
Hand Deformities, Congenital/pathology+ACo-
Hand Deformities, Congenital/embryology
Human
Male
Oligohydramnios
Pregnancy
Scalp/embryology
Scalp/abnormalities+ACo-
Skin Abnormalities/pathology+ACo-
Skin Abnormalities/embryology
Syndrome