PRENATAL-DIAGNOSIS OF SIRENOMELIA WITH BILATERAL HYDROCEPHALUS - REPORT OF A PREVIOUSLY UNDOCUMENTED FORM OF VACTERAL-H ASSOCIATION

Sirenomelia represents a severe developmental field defect of the post erior axis caudal blastema, resulting in partial or complete fusion of the lower limb buds. The VATER association is a combination of morpho logical defects including vertebral defects, anal atresia, tracheoesop hageal fistula, esophageal atresia, radial and renal anomalies. The VA CTERL-H association is a rare expanded form of the VATER association t hat includes cardiac defects, limb defects, and hydrocephalus. It has been suggested that the VATER association may represent a less severe form of sirenomelia. In this report, we document a case in which prena tal ultrasonography detected simultaneously occurring sirenomelia and hydrocephalus. Postmortem radiography and autopsy findings confirmed t he prenatal diagnosis. To our knowledge, this is the first report of p renatal diagnosis of a fetus with these two abnormalities. This report supports the hypothesis that VATER association, VACTERL-H association , and sirenomelia may represent pathophysiological ly related entities .