RESUMO
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.
Assuntos
Adulto , Feminino , Humanos , Masculino , Gravidez , Anormalidades Múltiplas , Anormalidades Múltiplas/embriologia , Aborto Habitual , Aborto Terapêutico , Autopsia , Doenças Fetais , Deformidades Congênitas do Pé/diagnóstico por imagem , Deformidades Congênitas do Pé , Deformidades Congênitas do Pé/embriologia , Genes Dominantes , Deformidades Congênitas da Mão/diagnóstico por imagem , Deformidades Congênitas da Mão , Deformidades Congênitas da Mão/embriologia , Oligo-Hidrâmnio , Couro Cabeludo/embriologia , Couro Cabeludo , Anormalidades da Pele , Anormalidades da Pele/embriologia , SíndromeRESUMO
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.