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In their recent article, Rappold et al1 investigated the presence of SHOX defects in a large cohort of 1608 children of short stature. Of the total number of SHOX mutations/deletions identified, 58% were found in 55 children with Leri–Weill dyschondrosteosis (LWD) and 2.2% in 1534 cases considered to have idiopathic short stature. The authors created an evidence-based scoring system based on the clinical features of 68 patients with SHOX defects to identify the most appropriate children for SHOX gene testing. The following criteria were used: arm span:height ratio <96.5%, sitting height:height ratio >55.5%, body mass index >50th centile and the presence of cubitus valgus, short forearm, bowing of the forearm, appearance of muscular hypertrophy and/or dislocation of the ulna. This scoring system had some limitations, such as a low positive predictive value (11%) when using the lower cutoff (score of 4) and a lower sensitivity (61%) when using the upper score …
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