Léri-Weill dyschondrosteosis: importance of physical examination

• Autores: Sofia Aires, Clara Gomes, Maria José Cálix, Joana Campos, Fátima Simões
• Localización: Scientia Medica, ISSN-e 1980-6108, Vol. 26, Nº. 1, 2016
• Idioma: inglés
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• Resumen

  • 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.