ArticleFrontiers in genetics2025
Case Report: Dual pathogenic mechanism of a
Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Acromesomelic dysplasia comprises a group of rare skeletal disorders characterized by dwarfism with anomalies predominantly affecting the middle and distal segments of the limbs. Based on genetic variants, five types are recognized, with significant phenotypic variability even within a single type. Here, we describe a girl presenting with borderline short stature and mild disproportion due to acro- and mesomelic shortening of the limbs. Radiographic examination revealed shortening of the radius and ulna, mild brachydactyly, absence of iliac flaring and metaphyseal alterations of the long bones, and biconcave appearance of the femoral necks and II-IV metacarpals, and an elongated styloid process of the ulna. Using WGS, we identified two novel variants in the
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