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

作者：Asael Lopez Valdez Jaime; Estrada Juarez Higinio; Romelia Moreno Verduzco Elsa; Aguinaga Rios Monica^*

来源：Fetal and Pediatric Pathology, 2013, 32(2): 152-157.

DOI：10.3109/15513815.2012.684846

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

Sirenomelia is the most severemalformation 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 analysiswere 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.

• 出版日期2013