Conţinutul numărului revistei |
Articolul precedent |
Articolul urmator |
848 24 |
Ultima descărcare din IBN: 2024-01-05 11:14 |
Căutarea după subiecte similare conform CZU |
616.71-007.234-07 (2) |
Patologia organelor de locomoţie. Sistemul osos şi locomotor (462) |
SM ISO690:2012 ŢURCAN, Cristina, SPRINCEAN, Mariana. Manifestări clinice în osteogeneza imperfectă. In: Buletin de Perinatologie, 2016, nr. 2(70), pp. 98-101. ISSN 1810-5289. |
EXPORT metadate: Google Scholar Crossref CERIF DataCite Dublin Core |
Buletin de Perinatologie | |||||||
Numărul 2(70) / 2016 / ISSN 1810-5289 | |||||||
|
|||||||
CZU: 616.71-007.234-07 | |||||||
Pag. 98-101 | |||||||
|
|||||||
Descarcă PDF | |||||||
Rezumat | |||||||
Osteogenesis imperfecta (OI), also known as brittle bone disease or Lobstein syndrome, is a congenital bone disorder characterized by brittle bones that are prone to fracture. OI may also present with shorter height, scoliosis, loose joints, weak muscles, brittle teeth, neurological features including communicating hydrocephalus, basilar invagination, seizures, blue sclerae, hearing loss, or other complications. People with OI are born with defective connective tissue, or without the ability to make it, usually because of a deficiency of type I collagen. Eight types of OI can be distinguished. Most cases are caused by mutations in the COL 1A1 and COL 1A2 genes, both of which code for type I collagen. In this article, we reported tow cases of 4 and 16-eyers-old male, with clinical examination revealed features of Osteogenesis Imperfecta like multiple fractures, malformed bones, shorter height, scoliosis, loose joints, weak muscles, blue sclerae, brittle teeth. |
|||||||
Cuvinte-cheie osteogenesis imperfect, malformed bones, blue sclerae, fractures |
|||||||
|