Dyssegmental dwarfism: A histologic study of osseous and nonosseous cartilage

Dyssegmental dwarfism is probably an autosomal recessive, lethal, generalized chondrodysplasia; it is characterized by anisospondyly, shortening of long bones, and narrow chest. The pathologic features of osseous and nonosseous cartilage in a stillborn female infant with dyssegmental dwarfism are described. The cartilage matrix of tubular bones, vertebrae, ilia, ribs, nose, larynx, and trachea showed acellular areas with accumulation of acid mucopolysaccharides and no increase in collagen fibers. The findings, although not pathognomonic, suggest that this type of dwarfism may be a generalized connective tissue disorder. The abnormal, synthesis, structure, or secretion of the components of the cartilaginous matrix may lead to accumulation of acellular material in both skeletal and respiratory tract cartilage.