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עמוד בית
Sat, 20.07.24

Original Articles

IMAJ | volume

Journal 6, June 2003
pages: 419-421

Decreased Bone Density in Carriers and Patients of an Israeli Family with the Osteoporosis-Pseudoglioma Syndrome

    Summary

    Background: The osteoporosis-pseudoglioma syndrome is a rare autosomal recessive disorder characterized by severe juvenile-onset osteoporosis and congenital or early-onset blindness. Other manifestations include muscular hypotonia, ligamentous laxity, mild mental retardation and seizures. The gene responsible was recently identified to be the low density lipoprotein receptor-related family member LRP5 on chromosome 11q11-12.

    Objective: To measure bone density in two siblings with the OPPG[1] syndrome as well as in their family members (parents and siblings).

    Methods: Bone mineral density was determined in the lumbar spine (antero-posterior), femoral neck, two-thirds distal forearm (>95% cortical bone) and ultradistal forearm (predominantly trabecular bone) by dual-energy X-ray absorptiometry.

    Results: The studies revealed osteoporotic changes both in the patients and the carriers.

    Conclusion: The findings demonstrate that OPPG carriers have reduced bone mass, which is a risk factor for development of early osteoporotic changes.
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    [1] OPPG = osteoporosis-pseudoglioma

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