The fifth female patient with Myhre syndrome: further delineation

We report the fifth female patient with Myhre syndrome (MS) and review the literature. She is a 13-year-old Mexican girl whose phenotype fulfills all the clinical and radiological criteria reported in MS such as typical facies, short stature, limited joint mobility, and short hands and feet. The physical habitus of MS is described and a square body shape is clearly distinguished in all cases. As the typical muscular build is present mainly in male patients, the MS muscular appearance may be hormonally influenced.