Proteus syndrome, a disorder which consists of skeletal, hamartomatous and other mesodermal malformations proves to be tremendously variable. Although most of the patients show deformities at birth, the diagnosis is usually made later in life as the phenotype develops over time. We report on the case of a fetus presenting in utero, with a cystic abdominal mass and malposition of the fingers, which was found to have additional features of Proteus syndrome after termination of pregnancy. This case demonstrates that severe cases of Proteus syndrome can be detected prenatally.
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Article Synopsis
- Proteus syndrome is a rare condition that causes overgrowth in limbs and organs, with some patients experiencing significant foot enlargement referred to as megafoot, leading to mobility and cosmetic challenges.
- Three patients underwent debulking surgery to address megafoot, resulting in improved mobility and function, although one patient experienced a recurrence after five years.
- Early surgical intervention showed better outcomes, as patients reported being able to wear shoes and walk comfortably post-surgery, despite ongoing debate in the literature regarding treatment strategies for Proteus syndrome.
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