Radiology Case Reports, Vol 6, No 4 (2011)

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Phocomelia: case report and differential diagnosis

Rasto Osadsky

Abstract


While rarely seen in the present day western world, phocomelia is not uncommon in underdeveloped countries. Phocomelia is an abnormality in which the limbs are not fully formed. It may be inherited as an autosomal recessive or dominant disorder.This case reports a 12 years old Afghan boy with multiple skeletal anomalies, most prominently of his right arm, including aplasia of the entire proximal humerus, hypoplasia of the clavicle and scapula, and absence of the radial ray and thumb. A hypoplastic left thumb was also present. Other anomalies included thoracic scoliosis, upper thoracic hemivertebrae and mild cardiomegaly. The differential diagnosis and likely diagnosis is discussed.

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