Marco Fabiani, Katia Margiotti, Francesco Libotte, Maria Luce Genovesi, Antonella Cima, Alvaro Mesoraca, Claudio Giorlandino
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引用次数: 0
Abstract
Introduction: Split Hand/Foot Malformation (SHFM) is a rare congenital disorder often linked to genetic duplications that disrupt normal limb development. Case report: Here, we present a novel case of SHFM associated with a 10q24.32 microduplication, identified through prenatal diagnosis. This microduplication includes genes essential for limb development, illustrating the complex genetic mechanisms underlying this malformation. The fetus exhibited severe malformations in both hands and feet, in contrast to the mild phenotype observed in the mother, who carries the same microduplication. Conclusion: This case enhances our understanding of the genetic basis of SHFM and highlights the critical role of comprehensive genetic analysis in prenatal diagnostics.
期刊介绍：
Fetal and Pediatric Pathology is an established bimonthly international journal that publishes data on diseases of the developing embryo, newborns, children, and adolescents. The journal publishes original and review articles and reportable case reports.
The expanded scope of the journal encompasses molecular basis of genetic disorders; molecular basis of diseases that lead to implantation failures; molecular basis of abnormal placentation; placentology and molecular basis of habitual abortion; intrauterine development and molecular basis of embryonic death; pathogenisis and etiologic factors involved in sudden infant death syndrome; the underlying molecular basis, and pathogenesis of diseases that lead to morbidity and mortality in newborns; prenatal, perinatal, and pediatric diseases and molecular basis of diseases of childhood including solid tumors and tumors of the hematopoietic system; and experimental and molecular pathology.
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