The Myhre syndrome: report of two cases

Garcia-Cruz D, Figuera LE, Feria-Velazco A, Sanchez-Corona J, Garcia-Cruz MO, Ramirez-Duenas RM, Hernandez-Cordova A, Ruiz MX, Bitar-Alatorre WE, Ramirez-Duenas ML, Cantu JM. The Myhre syndrome: report of two cases. Clin Genet 1993: 44: 203–207. © Munksgaard, 1993 Two unrelated patients, aged 19 and 6 years, were studied and diagnosed as having Myhre syndrome (MS). This review, together with three previous cases, permits further delineation of MS. The main features are: short stature, mental retardation, blepharophimosis, muscular hypertrophy, decreased joint mobility, thick calvarium, broad ribs, hypoplastic iliac wings and short tubular bones. Advanced paternal age at the propositi's birth suggests an autosomal dominant mutation as the cause of MS.