Phocomelia

Case contributed by Dr Fakhry Mahmoud Ebouda

Presentation

An infant was born with defect in the right lower limb.

Patient Data

Age: 9 days
Gender: Female
X-ray

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.

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Case information

rID: 39025
Case created: 16th Aug 2015
Last edited: 27th Nov 2015
Inclusion in quiz mode: Included

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