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Phocomelia

Case contributed by Hani Makky Al Salam
Diagnosis certain

Presentation

Abnormal limbs shape.

Patient Data

Age: 0 day
Gender: Female
x-ray

Absent forearm bones bilaterally; both hands are attached to both arms.

Absent both legs and shorter right femur than the left.

Case Discussion

Phocomelia is an extremely rare congenital skeletal disorder that manifests as deficiency or shortening of the limbs.

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