Denouement and Discussion
Metaphyseal Chondrodysplasia, Schmid Type
Major clinical manifestations include dwarfism of the short-limbed type, bowed legs, waddling gait, and normal head size. The bowing of the legs is noted prior to ambulation. The head circumference is usually normal. Coxa vara (responsible for the waddling gait) and genu vara are present. Adult height is in the range of 140 cm. Roentgenographic findings consist of widening, cupping, scalping, and irregularity of the metaphysis, which are more marked in the lower limbs, coxa vara, genu vara, and minimal, if any, epiphyseal, diaphyseal and spinal changes. There are other types of metaphyseal chondrodysplasias (eg, Jansen and McCusick types).
This type of metaphyseal chondrodysplasia is inherited as an autosomal dominant trait.
Treatment consists of orthopedic surgery when indicated, physical therapy, and genetic counseling.