A Fetus with Hemifacial Microsomia and Sirenomelia. The Same Mesodermal Defect Spectrum?

Abstract

Sirenomelia is the most severe malformation complex affecting the human caudal pole, although its etiology is unclear, a primary defect of blastogenesis has been proposed. Studies consider sirenomelia as the most severe form of caudal dysgenesis, VACTERL association, or axial mesodermal dysplasia, although others still support the idea of a different pathologic entity. We report the prenatal, clinical, and pathologic features of a fetus with cleft lip and palate, microtia, cardiac, renal and intestinal malformations, radial aplasia, and sirenomelia. Karyotype, chromosomal breakage studies, and SHH sequence analysis were normal. The occurrence of cephalic, midline-paramedial, and caudal malformations in the same patient imply the diagnosis of hemifacial microsomia and sirenomelia. These entities are part of the same mesodermal malformation spectrum and the clinical presentation depends on environmental and genetic interactions in embrionic development. Future clinical and genome wide studies will help to better delineate this spectrum.

Keywords :

• blastogenesis
• caudal dysgenesis
• hemifacial microsomia
• sirenomelia
• VACTERL

ACKNOWLEDGMENTS

We extend our gratitude to the patient's parents, to Bertha Molina, PhD, and Juan Carlos Zenteno, PhD, for their kind assistance in the cytogenetic and molecular studies. We thank Patricia Grether, PhD, and Carlos Venegas, PhD, for having critically revised the manuscript.