Osteopetrosis is an inherited skeletal condition characterized by increased bone radiodensity. There are three clinical groups: infantile-malignant autosomal recessive, fatal within the first few years of life (in the absence of effective therapy); intermediate autosomal recessive, appears during
The authors report a new form of metaphyseal chondrodysplasia revealed in a 5 1/2 year-old boy with seizures. This disorder associated coxa vara, large terminal phalanges, bilateral cataracts and severe mental deficiency. Both parents were healthy, suggesting autosomal recessive transmission. There