Pseudoachondroplastic Dwarfism

Abstract
Specimens of epiphyseal cartilage from ten patients with different types of dwarfism were studied and only in the specimens from patients with pseudoachondroplastic dwarfism were the findings indicative of a specific ultrastructural defect—a storage in the rough-surfaced endoplasmic reticulum of inclusions and whorls with alternately electron-dense and electron-lucent layers. The authors believe the material may be abnormal protein, perhaps lipoprotein or glycoprotein.