cov txha lov pom thaum lub sij hawm osteogenesis imperfecta tshwm sim ntawm cov pob txha ntev (tshwj xeeb tshaj yog cov ntawm cov ceg qis) thiab cov pob txha tiaj tus (ribs, vertebrae). Kev puas tsuaj ntawm femur yog feem ntau pom. Cov pob txha pob txha no feem ntau yog kab rov tav, hloov me ntsis thiab sib sau ua ke nyob rau tib lub sijhawm raws li cov pob txha tawg tshwm sim hauv cov pob txha. Qhov tshwm sim ntawm cov pob txha no txo ​​qis nrog lub hnub nyoog tshwj xeeb tshaj yog nyob rau hauv cov poj niam los ntawm kev puberty rau menopause ua tsaug rau kev tsim cov tshuaj estrogen.

cov pob txha deformities (femur, tibia, tav, pelvic pob txha) tshwm sim spontaneously los yog muaj feem xyuam rau vicious calluses. Spinal compression tuaj yeem ua rau muaj qhov tsis zoo ntawm tus txha caj qaum (scoliosis).

Ib qho kev txav mus los ntawm occipital foramen (qhib ntawm theem ntawm lub hauv paus ntawm lub pob txha taub hau tso cai rau tus txha caj qaum hla) ua rau lub cev deformations (tseem hu ua "basilar impression"). Mob taub hau (mob taub hau), ntse osteotendinous reflexes nrog tsis muaj zog ntawm cov ceg qis lossis kev puas tsuaj rau lub paj hlwb (trigeminal paj) yog cov teeb meem ntawm cov cranial deformities thiab pom zoo rau kev xyaum ntawm nuclear magnetic resonance imaging (MRI). ). Thaum kawg, lub ntsej muag tuaj yeem deformed me ntsis (cov duab peb sab nrog lub puab tsaig me me). X-rays ntawm pob txha taub hau ua rau nws muaj peev xwm ua kom pom cov pob txha Wormian (zoo li cov pob txha ntau ntxiv thiab txuas rau qhov tsis xws luag hauv ossification).

Luv stature feem ntau pom nyob rau hauv osteogenesis imperfecta.

Thaum kawg, lwm yam tshwm sim tuaj yeem ua tau:

- lubqhov muag puas (sclera) nrog lub ntsej muag xiav ntawm qhov muag dawb.

- Ligament hyperlaxity, tam sim no nyob rau hauv ntau tshaj ob feem peb ntawm cov neeg mob, tuaj yeem ua lub luag haujlwm rau ko taw tiaj tus.

- Kev lag ntseg uas tuaj yeem tshwm sim hauv menyuam yaus yog tshwm sim hauv cov neeg laus. Nws yeej tsis tob. Kev hnov ​​​​lus tsis zoo txuas rau kev puas tsuaj rau pob ntseg sab hauv lossis nruab nrab. Cov kev txawv txav no cuam tshuam rau cov ossification tsis zoo, kev pheej hmoo ntawm pob txha mos nyob rau hauv ib txwm ossified cheeb tsam thiab txawv txav calcium deposits.

– Noog ntshav thiab bruises (tshwj xeeb tshaj yog nyob rau hauv cov me nyuam) ua tim khawv rau fragility ntawm daim tawv nqaij thiab capillaries.

– kev puas tsuaj hu ua dentinogenesis imperfecta. Nws cuam tshuam rau ob qho tib si mis nyuj cov hniav (uas yog me dua li qub) thiab cov hniav mus tas li (zoo li lub tswb, nqaim ntawm lawv lub hauv paus) thiab sib raug rau qhov tsis muaj zog ntawm cov dentin. Cov enamel splits tau yooj yim tawm hauv cov dentin nthuav tawm. Cov hniav no hnav tawm ntxov ntxov thiab abscesses tuaj yeem tsim. Nws muab cov hniav ib qho amber xim thiab ua rau lawv ntau globular. Qee tsev neeg muaj cov kab mob sib kis ntawm cov hniav, zoo ib yam, tsis muaj pov thawj ntawm osteogenesis imperfecta.

- Thaum kawg, cov kab mob plawv tau tshwm sim rau cov neeg laus: aortic regurgitation, mitral valve prolapse, mitral insufficiency, dilations, aneurysms los yog rupture ntawm lub plawv kab noj hniav, lub aorta los yog cerebral hlab ntsha.

Kev sib txawv hnyav

Tus kab mob sib txawv hauv qhov hnyav ntawm tus neeg mob mus rau tus neeg mob thiab tag nrho cov tsos mob tau piav qhia tsis tshua muaj nyob hauv tib tus neeg mob. Vim qhov kev hloov pauv loj hauv kev kho mob (heterogeneity), kev faib tawm ntawm cov kab mob (Silence classification) yog siv thiab suav nrog plaub hom:

- Le type I : feem ntau cov ntaub ntawv nruab nrab (ob peb pob txha thiab deformations). Cov pob txha feem ntau pom tom qab yug me nyuam. Qhov loj me yog ze li qub. Lub sclera yog xim xiav. Dentinogenesis imperfecta yog pom nyob rau hauv hom IA tab sis tsis tuaj nyob rau hauv I B. Skull x-rays qhia ib tug speckled tsos (cov kob ntawm irregular ossification)

- hom II : Cov ntaub ntawv loj, tsis sib haum nrog lub neej (tuag) vim ua pa tsis ua haujlwm. X-rays qhia cov pob txha ntev ntev (accordion femur) thiab rosary tav

- yam III : mob hnyav tab sis tsis tuag. Cov pob txha raug pom ntxov thiab feem ntau ua ntej yug; Cov tsos mob muaj xws li deformity ntawm tus txha caj qaum (kyphoscoliosis) thiab luv luv stature. Lub sclera muaj xim sib txawv. Tej zaum yuav muaj dentinogenesis tsis zoo.

- yam IV : ntawm qhov hnyav nruab nrab ntawm hom I thiab hom III, nws yog tus cwj pwm los ntawm cov pob txha dawb, deformations ntawm cov pob txha ntev, pob txha taub hau thiab vertebrae (flattened vertebrae: platyspondyly). Dentinogenesis imperfect yog inconstant.