Presentation
An infant was born with defect in the right lower limb.
Patient Data
Age: 9 days
Gender: Female
From the case:
Phocomelia
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Almost total absence of the right leg bones (tibia and fibula) apart from presence of the most proximal part of the right tibia denoting phocomelia.
Case Discussion
Absence of the right leg bones denoting phocomelia. Phocomelia is an extremely rare congenital skeletal disorder that characteristically affects the limbs. Among the differential diagnosis is thalidomide embryopathy, which was previously the most common cause.