Osteoporosis-pseudoglioma syndrome - 위키피디아 영어

Osteoporosis-pseudoglioma syndrome or OPGG is a rare genetic condition characterized by early-onset blindness and severe osteoporosis alongside seemingly random bone fractures. It is clinically characterized by severe osteoporosis which is usually recognized and posteriorly diagnosed in ea...

Osteoporosis-pseudoglioma syndrome - About the Disease - Genetic and Rare Diseas

Find symptoms and other information about Osteoporosis-pseudoglioma syndrome.

Osteoporosis Pseudoglioma Syndrome OPPG | Research Focus Areas | Center for the

The osteoporosis-pseudoglioma syndrome (OPPG) is an autosomal recessive disorder that affects skeletal strength and vision. The first sign of OPPG is often congenital or infancy-onset vision loss due to abnormal blood vessel development in the eye. However, some people affected with OPPG have skeletal fractures as their earliest findings. These fractures occur in the context of very low bone mass, a trait that can be measured radiologically. We first reported mutations in the gene LRP5 as the cause of OPPG. LRP5 (Low density lipoprotein recepto ...

Calvarial doughnut lesions-bone fragility syndrome - 위키피디아 영어

[7] See also [edit] Osteoporosis-pseudoglioma syndrome, genetic disorder which combines the association of osteoporosis and pseudoglioma. Osteogenesis imperfecta, also known as brittle bone...

Osteoporosis-pseudoglioma syndrome - Genetics Home Reference - NIH

MENU Toggle navigation Osteoporosis-pseudoglioma syndrome Printable PDF Open All Close All Description Osteoporosis-pseudoglioma syndrome is a rare condition characterized by severe...

Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and v

Osteoporosis-pseudoglioma syndrome (OPS) is an autosomal recessive disorder characterized by severe juvenile-onset osteoporosis and congenital or juvenile-onset blindness. The pathogenic mechanism...

Osteoporosis‐pseudoglioma syndrome - de Paepe - 1993 - American Journal of Medic

Osteoporosis-pseudoglioma syndrome

Osteoporosis Pseudoglioma Syndrome

Osteoporosis pseudoglioma syndrome is characterized by intellectual disability, osteoporosis of bones and eye abnormalities. We report, a 14-year-old female child presented with walking difficulty...

Clinical and molecular findings in osteoporosis-pseudoglioma syndrome

Mutations in the low-density lipoprotein receptor-related protein 5 gene (LRP5) cause autosomal recessive osteoporosis-pseudoglioma syndrome (OPPG). We sequenced the coding exons of LRP5 in 37 prob...

Osteoporosis-pseudoglioma Syndrome: a pediatric case of primary osteoporosis

Its association with congenital retinal folds should guide the diagnosis to the Osteoporosis-Pseudoglioma syndrome (OMIM 259770), a rare disease (prevalence of 1/2 000 000), caused by the...