Long-limbed campomelic dwarfism. A radiologic and pathologic study

G. E. Austin, R. H. Gold, J. M. Mirra, S. Perry and S. Moedjono

Comparison of the roentgenographic and pathologic features of a case of classic, long-limbed campomelic dwarfism with those of previously reported cases leads to the conclusion that the bony abnormalities in this disorder are not due to an intrinsic abnormality of cartilage formation or of osteoblast or osteoclast function. Likewise, no defect in bone collagen, ground substance, or mineralization is evident. The bowing of the long bones may be the result of poorly understood muscular stresses operative in utero. Widespread defects in other organ systems are present, with considerable variation from patient to patient. Phenotypic females with disorder commonly suffer from gonadal dysgenesis. Autosomal recessive inheritance is suggested for a subgroup of these patients, but environmental factors may be causative in some instances.