A Case of VACTERL Association Diagnosed by Autopsy.
- Author:
In Yang PARK
1
;
Hyun Jung KIM
;
Jeong KIM
;
Hyun Young AHN
;
Guisera LEE
;
Young LEE
;
Jong Chul SHIN
;
Soo Pyung KIM
Author Information
1. Department of Obstetrics and Gynecology, College of Medicine, Catholic University of Korea, Seoul, Korea. jcshin@catholic.ac.kr
- Publication Type:Case Report
- Keywords:
VACTERL association;
anal atresia;
varus deformity of bilateral knee joints;
widening of interphalangeal space in right foot
- MeSH:
Abdomen;
Anal Canal;
Anus, Imperforate;
Autopsy*;
Congenital Abnormalities;
Diagnosis;
Extremities;
Female;
Femur;
Fetal Death;
Fetal Movement;
Foot;
Genitalia;
Humans;
Infant;
Intestines;
Knee Joint;
Lung;
Mandible;
Maxilla;
Microphthalmos;
Parents;
Phenotype;
Skeleton;
Skull;
Spleen;
Tracheoesophageal Fistula;
Ultrasonography;
Uterus
- From:Korean Journal of Perinatology
2003;14(4):438-441
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
VACTERL association is occuring in conjuction with vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis and limb defects. Additional abnormalities may include microphthalmia, abnormal lung lobulation and spleen defects. We describe a infant born to consanguineous healthy parents with multiple congenital anomalies of the skeleton and internal organs. A woman at 25 weeks gestaion was transferred to our hospital due to abnormal antenatal sonographic finding(molded calvarium, huge mass in abdomen, hyperechoic intestine and femur bowing). She admitted to our hospital due to decreased fetal movement 3 weeks later. Fetal death in uterus was diagnosed by sonogram. Its phenotype displays imperforated anus, absence of genital organ, absence of utrethral opeining, disunion of maxilla and mandible, varus deformity of bilateral knee joints, widening of interphalangeal space in right foot. The diagnosis was confirmed by clinical features, radiological findings, and autopsy. We reported this case of VACTERL association with review of literatures.
