The fractures inocherechedzwa panguva ye osteogenesis imperfecta inoitika pamapfupa akareba (kunyanya aya emakumbo ezasi) uye mapfupa akatsetseka (mbabvu, vertebrae). Kutsemuka kwechikadzi ndiko kunonyanya kucherechedzwa. Aya matyoka anowanzo kuchinjika, kutamiswa zvishoma uye anobatanidza mukati menguva imwecheteyo sepakatyoka kunoitika mubhonzo rakajairika. Kuitika kwekutyoka uku kunodzikira nezera kunyanya muvakadzi kubva pakuyaruka kusvika pakusiya kumwedzi nekuda kwekugadzirwa kweestrogen.

The kushomeka kwemapfupa (femur, tibia, mbabvu, pelvic bone) zvinongoitika zvega kana kuti zvine chekuita nehutsinye hunorira. Kudzvinyirirwa kwemusana kunogona kuva chikonzero chekugara uchiremara kwemusana (scoliosis).

Kusimuka kwepamusoro kweiyo occipital foramen (kuvhura pamwero wenheyo yedehenya inobvumira mutsipa wepelinha kupfuura) inoratidza cranial deformations (inonziwo "basilar impression"). Musoro wemusoro (musoro), unopinza osteotendinous reflexes nekushaya simba kwemakumbo ezasi kana kukuvadzwa kune cranial nerves (trigeminal nerve) matambudziko ehurema hwecranial uye kururamisa muitiro we nuclear magnetic resonance imaging (MRI). ) Pakupedzisira, chiso chinogona kuremara zvishoma (chitarisiko chetatu chine chirebvu chidiki). X-rays yedehenya inoita kuti zvikwanisike kuratidza mapfupa eWormian (akafanana nemapfupa epamusoro-soro uye akabatanidzwa kune chirema muossification).

Kupfupika kunowanzoonekwa mu osteogenesis imperfecta.

Pakupedzisira, zvimwe zviratidzo zvinogoneka:

- thekukuvadzwa kweziso (sclera) nechitarisiko chebluish chemuchena weziso.

-Ligament hyperlaxity, iripo mune zvinopfuura zvikamu zviviri muzvitatu zvevarwere, inogona kuve nehanya netsoka dzakadzikama.

- kusanzwa kunogona kuitika muhuduku kunowanikwa mukukura. Haina kumbodzika. Kurasika kwekunzwa kwakabatana nekukuvadzwa kwemukati kana pakati nzeve. Izvi zvisizvo zvakabatanidzwa nekushaya ossification, kuramba kwekashwa munzvimbo dzinowanzoitwa ossified uye abnormal calcium deposits.

- nosebleeds uye mavanga (kunyanya muvana) zvinopupurira fragility yeganda uye capillaries.

– kukuvadzwa kwemazino kunonzi dentinogenesis imperfecta. Inobata mazino ese emukaka (ayo madiki pane akajairwa) uye mazino echigarire (chitarisiko chakaita sebhero, chakatetepa pachigadziko chavo) uye chinoenderana nekushaya simba kwedentin. Iyo enamel inotsemuka nyore nyore kusiya dentini iri pachena. Mazino aya anosakara nguva isati yakwana uye maabscesses anogona kubuda. Inopa mazino ruvara rweamber uye inoita kuti awedzere kutenderera. Dzimwe mhuri dzinopa mazino anotapuriranwa magene, akangofanana, pasina humbowo hweosteogenesis imperfecta.

- pakupedzisira, kukanganisa kwemwoyo kwakataurwa kune vanhu vakuru: aortic regurgitation, mitral valve prolapse, mitral insufficiency, dilations, aneurysms kana kuputika kwemakumbo emwoyo, aorta kana cerebral blood vessels.

Variable kuomarara

Chirwere ichi chinosiyana mukuoma kubva kumurwere kusvika kune murwere uye zviratidzo zvose zvinotsanangurwa hazviwanzovipo mumurwere mumwe chete. Nekuda kwekusiyana uku kukuru kwekiriniki (heterogeneity), kupatsanurwa kwemhando dzechirwere (Kunyarara kupatsanura) inoshandiswa uye inosanganisira marudzi mana:

- Le type I : anowanzogara ane mwero mafomu (mashoma mafractures uye deformations). Kuputsika kunowanzoonekwa mushure mekuberekwa. Saizi iri pedyo neyakajairika. Iyo sclera ine ruvara rwebhuruu. Dentinogenesis imperfecta inoonekwa mumhando yeIA asi isipo muI B. Dehenya x-ray rinoratidza chimiro chine mavara

- mhando II : mafomu akakomba, asingaenderane nehupenyu (anouraya) nekuda kwekutadza kufema. X-rays inoratidza mapfupa akareba akaunyana (accordion femur) uye mbabvu dzerozari

- mhando III : mafomu akaoma asi kwete anouraya. Kutyoka kunoonekwa nekukurumidza uye kazhinji kusati kwazvarwa; Zviratidzo zvinosanganisira kuremara kwemusana (kyphoscoliosis) uye kupfupika. Iyo sclera inosiyana-siyana muruvara. Panogona kunge paine dentinogenesis isina kukwana.

- mhando IV : yekuoma kwepakati pakati pemhando I uye yerudzi rwechitatu, inoratidzirwa nechena sclera, deformations yemapfupa akareba, dehenya uye vertebrae (flattened vertebrae: platyspondyly). Dentinogenesis isina kukwana haisi nguva dzose.