Microspherophakia-Metaphyseal Dysplasia

Verloes et al. (1990) described a 'new' form of dwarfing skeletal dysplasia associated with major ocular abnormalities in a father and son. Although the small bones of the limbs were almost unaffected, thickening of the diaphyses of the long bones was striking on initial radiographs. With age, metaphyseal deformation became more prominent. The epiphyses became irregular and their growth was delayed, particularly at the femoral heads. The femoral neck showed an unusual 'lip' on the inner edge. In adulthood, only enlarged metaphyses and deformed femoral necks persisted. The vertebrae showed moderate deformation with irregular flattening, and narrowing of the spinal canal with a reduced interpedicular distance. The eye defects consisted of high-grade myopia, microspherophakia, lens coloboma, lens luxation, and retinal detachment. At age 41, the father was 139 cm tall.