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Journal of Bone and Joint Surgery, 1973;55:475-484.
© 1973 by The Journal of Bone and Joint Surgery, Inc

Pseudoachondroplastic Dwarfism

A ROUGH-SURFACED ENDOPLASMIC RETICULUM STORAGE DISORDER

REGINALD R. COOPER M.D.1, I. V. PONSETI M.D.1, and JERRY A. MAYNARD PH.D.1

1 From the Department of Orthopaedic Surgery, University Hospitals, University of Iowa, Iowa City

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.


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