Thalidomide phocomelia

Case contributed by Simon Rupret
Diagnosis certain

Presentation

Cough and left arm pain.

Patient Data

Age: 65 years
Gender: Female

Left upper limb

x-ray

Severe thalidomide associated skeletal dysplasia with abnormally formed bones of the upper arm and the shoulder girdle. Characteristic humerus deficiency. Radius and ulna are deformed and fused.

Similarly the glenohumeral joint is dysplastic, elbow appears fused; wrist articulation is preserved.

The hand is not clearly demonstrated but the visualized carpal and metacarpal bones are dysplastic.

No fracture or destructive lesion demonstrate

Chest radiograph

x-ray

The lungs and pleural spaces are clear with no consolidation or effusion.

Normal cardio-mediastinal structures.

Severe skeletal dysplasia of both shoulder girdles and arms.

Case Discussion

Thalidomide associated phocomelia is a rare congenital abnormality secondary to maternal thalidomide use in the first trimester of pregnancy.

Associated congenital abnormalities include facial and cardiac anomalies but upper limb anomalies are prevailing.

Thalidomide was used in the late 1950s and early 1960s for treatment of morning sickness which resulted in baby's born with severe upper limb abnormalities when taken during early pregnancy. Thalidomide was banned shortly thereafter. Therefore all patients with the characteristic deformities were born within those years and are now in adulthood.

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