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Hereditary congenital lymphedema, also known as Milroy disease, is an uncommon autosomal dominant disorder characterized by impaired lymphatic vessel development, resulting in bilateral lower limb edema at or shortly after birth.The condition exhibits incomplete penetrance.We report a case of a full-term female infant presenting with significant lower limb edema at birth, involving the dorsum of both feet and ankles, which was nonpitting in nature.The infant was admitted to the neonatal unit for respiratory support and discharged in good condition.There was a strong family history of Milroy disease, with four generations affected, but the parents declined confirmatory genetic testing and lymphoscintigraphy.This case adds to the body of research on this rare disease, illustrating that the diagnosis can be made clinically.
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Foster et al. (2026) studied this question.
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