TY - JOUR T1 - Anthropometric evaluation of children with <em>SHOX</em> mutations can be used as indication for genetic studies in children of short stature JF - Journal of Medical Genetics JO - J Med Genet SP - e90 LP - e91 VL - 44 IS - 10 AU - Alexander A L Jorge AU - Ivo J P Arnhold Y1 - 2007/10/01 UR - http://jmg.bmj.com/content/44/10/e90.abstract N2 - 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 &lt;96.5%, sitting height:height ratio &gt;55.5%, body mass index &gt;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 … ER -