THE MYHRE SYNDROME - REPORT OF 2 CASES

Two unrelated patients, aged 19 and 6 years, were studied and diagnose d as having Myhre syndrome (MS). This review, together with three prev ious cases, permits further delineation of MS. The main features are: short stature, mental retardation, blepharophimosis, muscular hypertro phy, decreased joint mobility, thick calvarium, broad ribs, hypoplasti c iliac wings and short tubular bones. Advanced paternal age at the pr opositi's birth suggests an autosomal dominant mutation as the cause o f MS.