WordNet

a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"
abnormal loss of bony tissue resulting in fragile porous bones attributable to a lack of calcium; most common in postmenopausal women

PrepTutorEJDIC

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. 骨形成不全症：臨床的特徴および診断 osteogenesis imperfecta clinical features and diagnosis
2. 骨格の正常な発達および骨形成ならびに骨吸収の調節 normal skeletal development and regulation of bone formation and resorption

Fractures on bisphosphonates in osteoporosis pseudoglioma syndrome (OPPG): pQCT shows poor bone density and structure.

Streeten EA1, Ramirez S2, Eliades M2, Jaimungal S2, Chandrasekaran S2, Kathleen R2, Holmes Morton D3, Puffenberger EG3, Herskovitz R4, Leonard MB4.
Bone.Bone.2015 Aug;77:17-23. doi: 10.1016/j.bone.2015.04.007. Epub 2015 Apr 16.
Osteoporosis pseudoglioma syndrome (OPPG) is a rare autosomal recessive disorder of childhood osteoporosis and blindness due to inactivating mutations in LDL receptor-like protein 5 (LRP5). We and others have reported improvement in areal bone mineral density (aBMD) by DXA in OPPG on short term bisp
PMID 25892485

Lara-Castillo N1, Johnson ML.
Reviews in endocrine & metabolic disorders.Rev Endocr Metab Disord.2015 Jun;16(2):141-8. doi: 10.1007/s11154-015-9315-2.
A dozen years ago the identification of causal mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene involved in two rare bone disorders propelled research in the bone field in totally new directions. Since then, there have been an explosion in the number of reports that hi
PMID 26048454

Atypical femoral fracture in osteoporosis pseudoglioma syndrome associated with two novel compound heterozygous mutations in LRP5.

Alonso N1, Soares DC, V McCloskey E, Summers GD, Ralston SH, Gregson CL.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.J Bone Miner Res.2015 Apr;30(4):615-20. doi: 10.1002/jbmr.2403.
Osteoporosis pseudoglioma syndrome (OPPG) is a rare autosomal recessive condition of congenital blindness and severe childhood osteoporosis with skeletal fragility, caused by loss-of-function mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene. We report the first case of
PMID 25384351