[Osteoporosis in congenital disorders].
Osteogenesis imperfecta (OI) is the most prevalent osteoporosis syndrome in childhood and is characterized by fractures and skeletal deformities. In almost all individuals, OI results from mutations in one of the two genes (COL1A1 and COL1A2) that encode the chains of type I collagen. OI can be divided into four major groups, type I, II, III, and IV, that differ in clinical presentation, mode of inheritance, radiographic picture, and, for the most part, the biochemical basis of the connective disorder. The molecular basis of OI is mainly discussed.
Tsuda
M
M
Department of Pediatrics, Nihon University School of Medicine.
Sakiyama
T
T
D003094:Collagen / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010013:Osteogenesis Imperfecta / Q000151:congenital* / Q000209:etiology / Q000235:genetics*; D010024:Osteoporosis / Q000151:congenital* / Q000209:etiology / Q000235:genetics*
D003094:Collagen