The ukuphuka okubonwa ngesikhathi se-osteogenesis imperfecta kwenzeka emathanjeni amade (ikakhulukazi lawo emilenzeni engezansi) kanye namathambo ayisicaba (izimbambo, ama-vertebrae). Ukuphuka kwe-femur yikhona okubonwa kakhulu. Lezi ziqhekeko zivame ukuba zivundlile, zithuthwe kancane futhi zihlanganiswe ngesikhathi esifanayo nokuphuka okwenzeka ethanjeni elivamile. Ukwenzeka kwalokhu kuphuka kuncipha ngokuya ngeminyaka ikakhulukazi kwabesifazane kusukela ekuthombeni kuya ekunqamukeni ngenxa yokukhiqizwa kwe-estrogen.

The ukukhubazeka kwamathambo (i-femur, i-tibia, izimbambo, ithambo le-pelvic) zenzeka ngokuzenzakalelayo noma zihlobene nama-calluses anonya. Ukucindezelwa komgogodla kungaba yimbangela yokukhubazeka okuvamile komgogodla (i-scoliosis).

Ukugudluzwa phezulu kwe-occipital foramen (evuleka ezingeni lesisekelo sogebhezi oluvumela intambo yomgogodla ukuba idlule) kubonisa ukukhubazeka kwe-cranial (okubizwa nangokuthi "i-basilar impression"). Ikhanda elibuhlungu (ikhanda elibuhlungu), i-reflexes ebukhali ye-osteotendinous enobuthakathaka bemilenze engezansi noma ukulimala kwemizwa ye-cranial (i-trigeminal nerve) yizinkinga zalokhu kukhubazeka kwe-cranial futhi zithethelele umkhuba we-nuclear magnetic resonance imaging (MRI). ). Ekugcineni, ubuso bungakhubazeka kancane (ukubukeka kukanxantathu nesilevu esincane). Ama-X-reyi ogebhezi akwenza kube nokwenzeka ukugqamisa amathambo e-Wormian (afana namathambo angaphezu kwezibalo futhi axhunywe nenkinga ekufakweni kwe-ossification).

Ubude obufushane buvame ukubonakala ku-osteogenesis imperfecta.

Okokugcina, okunye ukubonakaliswa kungenzeka:

- theukulimala kwamehlo (i-sclera) ngokubonakala okuluhlaza okwesibhakabhaka komhlophe weso.

- I-Ligament hyperlaxity, ekhona ngaphezu kwezingxenye ezimbili kwezintathu zeziguli, ingaba nesibopho sezinyawo eziphansi.

- ukungezwa okungase kwenzeke ebuntwaneni kuvamile lapho umuntu esekhulile. Ayijulile neze. Ukulahlekelwa ukuzwa kuhlotshaniswa nokulimala kwendlebe yangaphakathi noma ephakathi. Lezi zinto ezingavamile zixhunyaniswa nokungafihli kahle kwe-ossification, ukuphikelela koqwanga ezindaweni ezivame ukuba ne-ossified kanye nediphozithi ye-calcium engavamile.

- ukuphuma kwegazi namanxeba (ikakhulukazi ezinganeni) kufakazela ubuthakathaka besikhumba nama-capillaries.

– ukulimala kwamazinyo okubizwa i-dentinogenesis imperfecta. Kuthinta womabili amazinyo obisi (amancane kunokuvamile) namazinyo ahlala njalo (ukubukeka okumise okwensimbi, kuncishiswe esisekelweni sawo) futhi kuhambisana nokuba ntekenteke kwe-dentin. Uqweqwe luqhekeka kalula lushiya i-dentin obala. Lawa mazinyo aguga ngaphambi kwesikhathi futhi amathumba angavela. Inikeza amazinyo umbala we-amber futhi iwenza abe yimbulunga yonke. Imindeni ethile iveza ukukhubazeka kwamazinyo adluliselwa ngofuzo, okufana ncamashi, ngaphandle kobufakazi be-osteogenesis imperfecta.

- ekugcineni, ukukhubazeka kwenhliziyo nemithambo yegazi kuye kwabikwa kubantu abadala: ukuvuselelwa kwe-aortic, i-mitral valve prolapse, ukuntuleka kwe-mitral, ukuvuleka, ama-aneurysms noma ukuphuka kwemigodi yenhliziyo, i-aorta noma imithambo yegazi yobuchopho.

Ubunzima obuguquguqukayo

Lesi sifo siyahluka ngobunzima ukusuka esigulini kuye kwesinye futhi zonke izimpawu ezichazweyo azivamile ukuba khona esigulini esisodwa. Ngenxa yalokhu kuhlukahlukana okukhulu komtholampilo (i-heterogeneity), ukuhlukaniswa kwezinhlobo zesifo (Thulisa ukuhlukaniswa) isetshenziswa futhi ihlanganisa izinhlobo ezine:

- Thayipha I : amafomu amaphakathi avamile (ama-fracture ambalwa kanye nokukhubazeka). Ukuphuka ngokuvamile kubonakala ngemva kokuzalwa. Usayizi usondele kokujwayelekile. I-sclera inombala oluhlaza okwesibhakabhaka. I-Dentinogenesis imperfecta ibonwa ohlotsheni lwe-IA kodwa ayikho ku-I B. I-x-ray yogebhezi iveza ukubukeka okunamachashaza (iziqhingi ze-ossification engavamile)

- uhlobo II : amafomu anzima, angahambisani nokuphila (okubulalayo) ngenxa yokwehluleka ukuphefumula. Ama-X-ray abonisa amathambo amade ashwabene (i-accordion femur) nezimbambo zerosari

- uhlobo III : amafomu anzima kodwa angabulali. Ukuphuka kubonakala kusenesikhathi futhi kaningi ngaphambi kokuzalwa; Izimpawu zihlanganisa ukukhubazeka komgogodla (kyphoscoliosis) kanye nesiqu esifushane. I-sclera iyahlukahluka ngombala. Kungase kube ne-dentinogenesis engaphelele.

- uhlobo IV : yobukhulu obuphakathi phakathi kohlobo I kanye nohlobo lwe-III, ibonakala nge-sclera emhlophe, ukuguqulwa kwamathambo amade, ugebhezi kanye nama-vertebrae (ama-vertebrae ayisicaba: i-platyspondyly). I-Dentinogenesis engaphelele ayishintshi.