osteogenesis imperfecta

osteogenesis imperfecta
/im'peuhr fek"teuh/, Pathol.
a rare hereditary disease in which abnormal connective tissue development leads to fragile bones subject to fracture.
[1900-05; < NL: imperfect osteogenesis]

* * *

Group of connective-tissue diseases in which the bones are very fragile.

Several forms probably reflect different degrees of expression of the same disorder. Persons with osteogenesis imperfecta type I are normal at birth, but fractures occur easily; in van der Hoeve syndrome the sclerae are bluish, bone deformities in the skull cause deafness, double-jointedness occurs, and skin is abnormally thin. Babies with osteogenesis imperfecta type II, if not stillborn, are born with fractures, and fractures continue to occur, causing severe crippling; survival to adulthood is rare.

* * *

      hereditary disease of connective tissue characterized by brittle bones (bone) that fracture easily. In the disorder, a genetic defect causes the abnormal or reduced production of the protein collagen, a major component of connective tissue. There are four types of OI, which differ in symptoms and severity.

      An infant with the most common type of OI, type I, is normal at birth, but fractures occur over the following years; the frequency of fractures tends to diminish after puberty. The sclerae of the eyes may appear bluish owing to their abnormal thinness, which permits the pigmentation of the choroid (the middle coat of the eyeball) to show. Hearing loss may be caused by deformities of the bones of the inner ear as well as pressure on the auditory nerve because of deformity of its canal in the skull. Double-jointedness, brittle teeth, and abnormally thin skin are also characteristic of type I. In type II OI, the most severe form of the disease, stillbirth is common, or fractures are evident at birth; severe crippling often occurs, and survival to adulthood is uncommon. Type III OI causes symptoms that are similar to type I but is more severe. Type IV OI is moderately severe; it is also similar to type I, but the sclerae are normal.

      There is no cure for OI; treatment is directed toward preventing fractures, controlling symptoms, and developing bone mass. The surgical insertion of metal rods in certain bones may prevent or correct deformities.

* * *

Universalium. 2010.

Игры ⚽ Нужно решить контрольную?

Look at other dictionaries:

  • Osteogenesis imperfecta — Classification and external resources The classic blue sclerae of a person with osteogenesis imperfecta ICD 10 Q …   Wikipedia

  • osteogénesis imperfecta — f. anat. patol. Enfermedad congénita que se caracteriza por una coloración azul de las escleróticas y una excesiva fragilidad ósea que causa de fracturas múltiples. También se denomina enfermedad de Lobstein u osteopsatirosis. Medical Dictionary …   Diccionario médico

  • OSTEOGENESIS IMPERFECTA — (несовершенное костеобразование), редкое заболевание, впервые описанное Фроликом (Vrolik; 1849). Предлагавшиеся др. многочисленные названия этого заболевания: fragilitas ossium, osteopsathyrosis congenita (Klebs, Hoch singer и др.), malacia… …   Большая медицинская энциклопедия

  • Osteogénesis imperfecta — Clasificación y recursos externos CIE 10 Q 78 0 q 65 CIE 9 756.51 DiseasesDB …   Wikipedia Español

  • Osteogénesis imperfecta — es un grupo de enfermedades caractizados por fragilidad de hueso excesivo, por resulto de deficiencia congénito de la elaboración de fiebres de colágeno. * * * Grupo de enfermedades del tejido conectivo en que los huesos son muy frágiles. Varias… …   Enciclopedia Universal

  • osteogenesis imperfecta — ● osteogenesis imperfecta nom féminin Maladie de la trame conjonctive de l os, responsable d une véritable ostéoporose, se traduisant par des fractures spontanées et des malformations osseuses, souvent associée à une surdité et à une coloration… …   Encyclopédie Universelle

  • osteogenesis imperfecta — [äs΄tē ō jen′ə sis im΄pər fek′tə] n. a rare hereditary disorder of connective tissue, characterized by thin, brittle bones and progressive deafness …   English World dictionary

  • Osteogenesis imperfecta — Klassifikation nach ICD 10 Q78.0 Osteogenesis imperfecta …   Deutsch Wikipedia

  • Osteogenesis imperfecta — Brittle bone disease. Osteogenesis imperfecta (OI) is not one but a group of genetic diseases, all of which affect collagen in connective tissue in the body and all of which result in fragile bones. The best known types are types I and II. * * *… …   Medical dictionary

  • Osteogenesis imperfecta — Osteogẹnesis imperfẹcta   [lateinisch imperfectus »unvollendet«, »unvollkommen«] die, , Glasknochenkrankheit, genetisch bedingte Entwicklungsstörung der Knochen infolge einer mangelhaften Bildung von Knochenbälkchen (Hemmung der… …   Universal-Lexikon

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”