Consideration of VACTERL association in patients with trisomy 21.

摘要

The presence of VACTERL association may be diagnosed in patients with a combination of the following congenital malformations: vertebral defects, anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies, and limb abnormalities. Since its first description in 1972, the definition has continued to shift, and in current practice, the criteria for diagnosis may differ between the clinicians, but most clinicians require the presence of at least three component features without clear evidence for an alternate, overlapping diagnosis, of which there are many (these include Fanconi anemia, Townes-Brocks syndrome, CHARGE syndrome, and Pallister-Hall syndrome)