Metacarpophalangeal pattern profile analysis in Leri-Weill dyschondrosteosis

• Purpose: To analyze the metacarpophalangeal profile (MCPP) in individuals with Leri‐Weill dyschondrosteosis (LWD) and to assess its value as a possible contributor to early diagnosis. Material and Methods: Hand profiles of 39 individuals with a diagnosis of LWD were calculated and analyzed. Discriminant analysis was applied to differentiate between LWD and normal individuals. Results: There was a distinct pattern profile in LWD. Mean pattern profile showed two bone‐shortening gradients, with increasing shortening from distal to proximal and from medial to lateral. Distal phalanx 2 was disproportionately long and second metacarpal was disproportionately short. Discriminant analysis yielded correct classification in 72% of analyzed cases. Conclusion: MCPP is not age‐related and the analysis can be applied at any age, facilitating early diagnosis of LWD. In view of its availability, low costs, and diagnostic value, MCPP analysis should be considered as a routine method in the patients of short stature where LWD is suspected.

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