Mitral valve prolapse in a patient with frontometaphyseal dysplasia

Frontometaphyseal dysplasia (FMD) was described by Gorlin and Cohen 1969. Since then, 20 cases have been reported. The common findings include a characteristic face with particularly prominent supraorbital ridges, defective vision, hearing and dentition, micrognathia, high arched palate, winged scapulae, limited joint motion, and poorly developed musculature. Despite the presence of a heart murmur described in several patients, a specific cardiac lesion has not been diagnosed. This report describes a patient with mitral valve prolapse (MVP) and FMD.