phocomelia

Phocomelia is an extremely rare congenital skeletal disorder that characteristically affects the limbs. It can affect either the upper limbs or lower limbs or both. Phocomelia is also a descriptive term to describe the characteristic limb anomalies occurring with its associated conditions.

Pathology

It characteristically manifests as a deficiency or shortening of the proximal to mid portions of the limbs.

Associations 

Phocomelia can occur sporadically. However, recognized associations include:

Radiographic features

Antenatal ultrasound

Classically with upper limb involvement, the hands are present, but with variable deficiency and or foreshortening of the arm and/or forearm. The hands may be of normal or abnormal morphology.

History and etymology

Derived from the Greek phoco meaning "seal" and melia meaning "limb".

Differential diagnosis

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