Léri-Weill dyschondrosteosis (LWD) is usually caused by haploinsufficiency of the short stature homeobox-containing gene (SHOX). The clinical manifestation of this disease is a classic triad, which are short stature, mesomelia and Madelung deformity. LWD also includes other features, such as high body mass index. Short stature and high body mass index are risk factors of type 2 diabetes mellitus and cardiovascular disease; however, LWD combined with type 2 diabetes mellitus or metabolic syndrome have not been described in the literature. In this article, we report a case of LWD caused by an M1T mutation of the start codon of the SHOX gene. The patient also had type 2 diabetes mellitus, hypertension and dyslipidemia. It is suggested that patients with LWD should be identified promptly, and the prevention and treatment of metabolic diseases and cardiovascular disease should be taken into consideration in patients with LWD.
Keywords: Cardiovascular risk factors; Léri-Weill dyschondrosteosis; Short stature.
© 2020 The Authors. Journal of Diabetes Investigation published by Asian Association for the Study of Diabetes (AASD) and John Wiley & Sons Australia, Ltd.