title: Decreased bone density in carriers and patients of an Israeli family with the osteoporosis-pseudoglioma syndrome.
abstract: 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 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.
  
  
  CONCLUSIONS
  The findings demonstrate that OPPG carriers have reduced bone mass, which is a risk factor for development of early osteoporotic changes.
authors.affiliation: Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel. dorlev@post.tau.ac.il
authors.forename: Dorit
authors.initials: D
authors.lastname: Lev
authors.forename: Inga
authors.initials: I
authors.lastname: Binson
authors.forename: A Joseph
authors.initials: AJ
authors.lastname: Foldes
authors.forename: Nathan
authors.initials: N
authors.lastname: Watemberg
authors.forename: Tally
authors.initials: T
authors.lastname: Lerman-Sagie
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology*; D015502:Absorptiometry, Photon; D000293:Adolescent; D000328:Adult; D001766:Blindness / Q000235:genetics*; D015519:Bone Density; D016022:Case-Control Studies; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D003241:Consanguinity; D005542:Forearm / Q000473:pathology; D005808:Genes, Recessive / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007557:Israel; D007585:Jews / Q000235:genetics; D026502:LDL-Receptor Related Proteins; D060492:Low Density Lipoprotein Receptor-Related Protein-5; D008159:Lumbar Vertebrae / Q000473:pathology; D008297:Male; D009154:Mutation / Q000235:genetics; D010024:Osteoporosis / Q000235:genetics* / Q000473:pathology*; D010375:Pedigree; D011973:Receptors, LDL / Q000235:genetics*; D012307:Risk Factors; D012640:Seizures / Q000235:genetics*; D013577:Syndrome; D014416:Tunisia
chemical_list: D026502:LDL-Receptor Related Proteins; C555482:LRP5 protein, human; D060492:Low Density Lipoprotein Receptor-Related Protein-5; D011973:Receptors, LDL