Metabolic syndrome coexists with adult Léri-Weill dyschondrosteosis: A case report.

Leri-Weill dyschondrosteosis (LWD) is usually caused by haploinsufficiency of the short stature homeobox-containing gene (SHOX). The clinical manifestation of this disease is classic triad which are short stature, mesomelia, and Madelung deformity. LWD also includes other features such as high body mass index (BMI). Short stature and high BMI are risk factors of Type 2 diabetes mellitus and cardiovascular disease (CVD), however, LWD combined with type 2 diabetes mellitus or metabolic syndrome have not been described in the literature. In this paper, we report a case of LWD caused by an M1T mutation of the start codon of the SHOX gene. She also has 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 CVD should be taken into consideration in patients with LWD.