Presentation
Left upper limb deficiency since birth.
Patient Data
Age: 3 years
Gender: Male
From the case:
Preaxial longitudinal limb defiency (radial hemimelia)
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Complete absence of the left radius and thumb, characterizing preaxial longitudinal limb deficiency.
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".