Lev Dorit, Binson Inga, Foldes A Joseph, Watemberg Nathan, Lerman-Sagie Tally
Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel.
Isr Med Assoc J. 2003 Jun;5(6):419-21.
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.
To measure bone density in two siblings with the OPPG syndrome as well as in their family members (parents and siblings).
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.
The studies revealed osteoporotic changes both in the patients and the carriers.
The findings demonstrate that OPPG carriers have reduced bone mass, which is a risk factor for development of early osteoporotic changes.
