Congenital upper limb deficiency

Case contributed by Ammar Haouimi
Diagnosis almost certain

Presentation

Anomalies of the right upper limb.

Patient Data

Age: 3 months
Gender: Female
x-ray

Transverse deficiency of the right upper limb with absence of the distal ulna, wrist, and hand bones (acheiria).

The left upper limb and lower limbs were normal.

Case Discussion

Congenital limb deficiency is defined as a loss of any part of a limb. It can be partial uni or bilateral loss or total loss of multiple extremities. Congenital limb deficiency can be congenital (due to genetic syndromes or amniotic bands) or acquired (such as trauma, infection or malignancy).

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