Léri-Weill dyschondrosteosis: importance of physical examination

  • Sofia Aires Centro Hospitalar Tondela-Viseu
  • Clara Gomes Centro Hospitalar Tondela-Viseu
  • Maria José Cálix Centro hospitalar Tondela-Viseu
  • Joana Campos Centro Hospitalar Tondela-Viseu
  • Fátima Simões Centro Hospitalar Tondela-Viseu
Keywords: Léri-Weill Dyscondrosteosis, Madelung deformity, SHOX gene, body dysmorphic disorders, genetic diseases, inborn, failure to thrive, body height.


Aims: To report a case of Léri-Weill dyschondrosteosis, a rare hereditary bone dysplasia often associated with a haploinsufficiency of the SHOX (short stature homeobox-containing) gene.

Case description: A three-year-old female had sought medical care for hypertension. Irrelevant personal and family background. The physical examination showed dysmorphic aspect with shortening of arms and legs, small hands and feet, and short neck. Hypertension was not confirmed. Genetic study for chromosomal deletion syndromes revealed mutations in the SHOX gene compatible with Léri-Weill dyschondrosteosis.

Conclusions: Physical examination is essential in clinical practice, allowing the identification of major changes that are not always the reason for the medical appointment. Early diagnosis and proper guidance are essential in Léri-Weill dyschondrosteosis, especially because of its therapeutic implications. The outcome is favorable if the disorder is treated with growth hormone therapy.


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Author Biographies

Sofia Aires, Centro Hospitalar Tondela-Viseu
Clara Gomes, Centro Hospitalar Tondela-Viseu
Maria José Cálix, Centro hospitalar Tondela-Viseu
Joana Campos, Centro Hospitalar Tondela-Viseu
Fátima Simões, Centro Hospitalar Tondela-Viseu


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How to Cite
Aires, S., Gomes, C., Cálix, M. J., Campos, J., & Simões, F. (2016). Léri-Weill dyschondrosteosis: importance of physical examination. Scientia Medica, 26(1), ID22406. https://doi.org/10.15448/1980-6108.2016.1.22406
Case Reports