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Anthropometric evaluation of children with SHOX mutations can be used as indication for genetic studies in children of short stature
  1. Alexander A L Jorge1,
  2. Ivo J P Arnhold1
  1. Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia, Hospital das Clinicas, Sao Paulo, Brazil
  1. Correspondence to:
 Alexander A L Jorge
 R Dr Eneas de Carvalho Aguiar 155, 2o andar, Bloco 6, Laboratorio de Hormonios, Predio dos Ambulatorios do HCFMUSP, Sao Paulo 05403900, Brazil; alexj{at}usp.br

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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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