Prenatal Diagnosis of Sirenomelia with Bilateral Hydrocephalus: Report of a Previously Undocumented form of VACTERL-H Association

Chukwuma I. Onyeije; David M. Sherer; Sara Handwerker; Leena Shah

doi:10.1055/s-2007-993925

American Journal of Perinatology, Table of Contents

Am J Perinatol 1998; 15(3): 193-197
DOI: 10.1055/s-2007-993925

ORIGINAL ARTICLE

Prenatal Diagnosis of Sirenomelia with Bilateral Hydrocephalus: Report of a Previously Undocumented form of VACTERL-H Association

Chukwuma I. Onyeije¹ ^, ² , David M. Sherer¹ , Sara Handwerker² , Leena Shah¹ ^, ²

¹Division of Maternal-Fetal Medicine, The Department of Obstetrics & Gynecology and Women's Health, Albert Einstein College of Medicine, Bronx, New York
²The Department of Obstetrics and Gynecology, North Central Bronx Hospital, Montefiore Medical Center, Bronx, New York

Abstract

ABSTRACT

Sirenomelia represents a severe developmental field defect of the posterior axis caudal blastema, resulting in partial or complete fusion of the lower limb buds. The VATER association is a combination of morphological defects including vertebral defects, anal atre-sia, tracheoesophageal fistula, esophageal atresia, radial and renal anomalies. The VACTERL-H association is a rare expanded form of the VATER association that 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 prenatal ultrasonography detected simultaneously occurring sirenomelia and hydrocephalus. Postmortem radiography and autopsy findings confirmed the prenatal diagnosis. To our knowledge, this is the first report of prenatal diagnosis of a fetus with these two abnormalities. This report supports the hypothesis that VATER association, VACTERL-H association, and sirenomelia may represent pathophysiologically related entities.

Keywords

Prenatal ultrasonography - sirenomelia - VACTERL-H association - VATER association

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