By David L. Rimoin (auth.), Harry Harris, Kurt Hirschhorn (eds.)
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Rimoin epiphyseal dysplasia before they are classified as spondyloepiphyseal dysplasiaY7,121,122,207,209 Thus the distinction in the literature between these two groups of disorders is somewhat confusing. Fairbank reported an epiphyseal biopsy in one of his original patients showing bone which was not very abnormal except for rather scarce bony trabeculae which appeared more like woven bone than compact bone. 66 Anderson et al. 6 and Hunt et alY8 both reported marked disorganization of endochondral ossification in the growth plates of patients stated to have multiple epiphyseal dysplasia; however, these patients had platyspondyly and metaphyseal irregularity, suggesting that they may represent spondyloepiphyseal dysplasia instead.
Diastrophic Dwarfism Diastrophic dwarfism is a complex chondrodystrophy associated with short-limb dwarfism, progressive scoliosis, hand malformations, severe club foot, bilateral hip dysplasia, joint contractures, ear malformations, and occasional cleft palate (Fig. 5A). 346 This syndrome was first delineated in 1960 by Lamy and Maroteaux,161 who coined the term "diastrophic" dwarfism after the geological term "diastrophism," which refers to the bending and twisting of the earth's crust. This syndrome has frequently been misdiagnosed as achondroplasia with club hands and club feet.
We have observed two unrelated patients with this disorder, and Walker et al. 336 included two patients with the variant in their extensive series of diastrophic dwarfs. The diastrophic variant resembles diastrophic dwarfism qualitatively, but is much milder in severity. These individuals are not severely dwarfed, with heights usually greater than 55 inches. They are a number of clinical features in common with diastrophic dwarfs, such as club feet, external ear deformities, hand anomalies, and peculiar facies, but the number of anomalies present and their severity are quite variable from patient to patient.