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.
D000293:Adolescent; D001848:Bone Diseases, Developmental / Q000150:complications* / Q000235:genetics; D004452:Echocardiography; D004562:Electrocardiography; D006801:Humans; D008297:Male; D008945:Mitral Valve Prolapse / Q000150:complications* / Q000175:diagnosis