Multiple Epiphyseal Dysplasia: Report of 2 Cases / 대한정형외과학회잡지

ABSTRACT

Two cases of multiple epiphyseal dysplasia in a 3 years old boy and a 10 years old girl are reported. Since Fairbanks description of the disease in 1935, it has been a well recognized entity which is a rare congenital developmental error characterized by mottling or irregularity in density and outline of several of the developing epiphyses, and dwarfism. Many reports indicate a definite hereditary and familiar distribution, particularly one series in which there were 10 cases in a single family, But in this report parent and siblings, all of whom were examined clinically, and roentgenographically showed no demonstrable stigmata of any growth disturbance. As the child develops, a subnormal growth rate becomes more obvious. The vertebrae are usually not affected so that dwarfing is confined to the extremity. The process rarely comes to attention of the physician until the child begin to walk, and then it is noted that one has a waddling gait and short stubby digits of the hands and feet. Intelligence is unaffected. Prognosis as to life expectancy and range of activity is good.