Discondrosteose de Léri-Weill: importância do exame físico

Abstract

Este artigo está licenciado sob forma de uma licença Creative Commons Atribuição 4.0 Internacional, que permite uso irrestrito, distribuição e reprodução em qualquer meio, desde que a publicação original seja corretamente citada. ABSTRACT 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.