Aim: The aim of our case report is to display modern possibilities of prenatal diagnosis of different types of congenital lymphedemas compared to postnatal diagnostic options. Background: Milroy's syndrome (MS) or primary congenital lymphedema as the most common form of the group of hereditary primary lymphedemas. It is a rare condition and until these days FTL4 encoding vascular endothelial growth factor receptor 3 (VEGFR 3) is the only gene detected to be associated with MS. Case description: We present a case of prenatally diagnosed MS with its typical clinical manifestation and postnatally confirmed genetic background. What makes our case interesting is the curiosity behind the combination of proven features of lymphedema type 1A and by DNA analysis detected chromosomal aberrance as a fragile site at chromosome 16q22 which responds to another types of congenital lymphedema. Conclusion: MS has proven causality with hereditary defects in the gene encoding VEGFR 3 on 5q35.3. However, to date, no case of MS has been reported in which DNA analysis demonstrates the overlap of traits and features responded of other types of lymphedemas. Clinical significance: The reported case provides an opportunity for further investigation and understanding of the genetic background and pathophysiology of this rare condition.
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