2024 Volume 60 Issue 2 Pages 317-322
VACTERL association consists of vertebral defects（V）, anal atresia（A）, cardiac malformations（C）, tracheo-esophageal fistula with esophageal atresia（TE）, renal defects or radial limb dysplasia（R）, and limb abnormalities（L）. The association is named with these initials. These multisystem morphological abnormalities are recognized at once. The incidence is estimated at approximately 1 in 10,000 to 40,000 births, and the diagnosis is based on the presence of at least three VACTERL component features. VACTERL association is associated with various other abnormalities, but central nervous system is rare. We experienced two cases of VACTERL association with Chiari malformation type 2.
The cases were girls at 38 and 35 weeks of gestation, respectively. Both cases were diagnosed severe vertebral defects, anal atresia, abnormal renal defects, clubfoot and complicated by Chiari malformation type 2 in utero. After birth, surgery for myelomeningocele, ventriculoperitoneal shunt, and surgical intervention for anal atresia were performed.
The morphological abnormalities of the VACTERL association are formed around the third weeks of gestation, which is similar to the time of formation of Chiari malformation type 2. We discussed the relationship between the two diseases.
