Preaxial longitudinal limb defiency (radial hemimelia)

Case contributed by Leonardo Lustosa
Diagnosis certain

Presentation

Left upper limb deficiency since birth.

Patient Data

Age: 3 years
Gender: Male

Complete absence of the left radius and thumb, characterizing preaxial longitudinal limb deficiency.

Capitate and hamate coalition.

Humeroulnar synostosis.

Congenital rib fusion.

Case Discussion

Congenital limb deficiencies are a wide spectrum of musculoskeletal disorders marked by the absence or severe hypoplasia of a limb or part of a limb.

In the present case, the radius and the thumb are completely absent. This characterizes a pre-axial longitudinal upper limb deficiency.

This combination of defects is also commonly referred to as "radial hemimelia".

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