ka fractures ʻike ʻia i ka wā osteogenesis imperfecta ma nā iwi lōʻihi (ʻoi aku ka nui o nā lālā haʻahaʻa) a me nā iwi pālahalaha (nā iwi ʻaoʻao, vertebrae). ʻO nā haʻihaʻi o ka femur ka mea i ʻike pinepine ʻia. Hoʻopaʻa pinepine kēia mau haʻihaʻi, hoʻoneʻe iki ʻia a hoʻohui pū ʻia i loko o ka manawa like me ka haʻi ʻana i ka iwi maʻamau. Ke emi nei ka hana ʻana o kēia mau haʻihaʻi me ka makahiki ʻoi aku ka nui o nā wahine mai ka wā ʻōpio a hiki i ka menopause mahalo i ka hana ʻana o ka estrogen.

ka na ʻaila iwi (femur, tibia, iwi ʻaoʻao, iwi pelvic) hiki wale mai a pili i nā calluses ino. ʻO ka hoʻopiʻi ʻana i ke kuamoʻo ke kumu o nā deformities pinepine o ka spine (scoliosis).

ʻO ka hoʻoneʻe ʻana i luna o ka foramen occipital (e wehe ana ma ke kiʻekiʻe o ke kumu o ka iwi poʻo e hiki ai ke hele i ke kuamoʻo) ʻike ʻia nā deformations cranial (i kapa ʻia ʻo "basilar impression"). ʻO ke poʻo (ke poʻo), ka ʻoi o ka osteotendinous reflexes me ka nāwaliwali o nā lālā haʻahaʻa a i ʻole ka hōʻino ʻana i nā aʻalolo cranial (trigeminal nerve) nā pilikia o kēia mau deformities cranial a hoʻāpono i ka hana o ka nuclear magnetic resonance imaging (MRI). ). ʻO ka hope, hiki ke hoʻololi iki ka maka (kahi triangular hiʻohiʻona me kahi auwae liʻiliʻi). Hiki i nā kukui X o ka iwi po'o ke hō'ike i nā iwi Wormian (e like me nā iwi supernumerary a pili i kahi hemahema o ka ossification).

ʻIke pinepine ʻia ke kino pōkole i ka osteogenesis imperfecta.

ʻO ka hope, hiki i nā hōʻike ʻē aʻe:

- kapōʻino o ka maka (sclera) me ka ʻulaʻula o ka keʻokeʻo o ka maka.

- ʻO ka hyperlaxity ligament, aia ma mua o ʻelua hapakolu o nā maʻi, hiki ke kuleana no nā wāwae palahalaha.

- ʻo ke kuli i hiki ke loaʻa i ka wā kamaliʻi ka mea maʻamau i ka wā makua. Aole hohonu. Hoʻopili ʻia ka nalo ʻana o ka lohe i ka pōʻino o ka pepeiao o loko a waena paha. Hoʻopili ʻia kēia mau mea ʻino i ka ossification maikaʻi ʻole, ka hoʻomau ʻana o ka cartilage i nā wahi ossified maʻamau a me nā waihona calcium maʻamau.

- ka ihu a me nā ʻeha (ʻoi loa i nā keiki) e hōʻike i ka palupalu o ka ʻili a me nā capillaries.

– kapa ʻia ka poino niho dentinogenesis imperfecta. Hoʻopilikia ia i nā niho waiū ʻelua (ʻoi aku ka liʻiliʻi ma mua o ka maʻamau) a me nā niho paʻa (ke ʻano ʻano bele, ʻokiʻoki i ko lākou kumu) a pili i ka palupalu o ka dentin. Māhele maʻalahi ka enamel me ka waiho ʻole ʻana i ka niho. Pau kēia mau niho i ka wā mua loa a hiki ke ulu nā ʻōpū. Hāʻawi ia i nā niho i ka waihoʻoluʻu amber a ʻoi aku ka honua. Ke hōʻike nei kekahi mau ʻohana i nā kīnā niho i hoʻoili ʻia ma ke ʻano genetically, ʻano like, me ka ʻole o ka hōʻike o ka osteogenesis imperfecta.

- ʻO ka hope, ua hōʻike ʻia nā maʻi maʻi cardiovascular i nā pākeke: aortic regurgitation, mitral valve prolapse, mitral insufficiency, dilations, aneurysms a i ʻole rupture o nā ʻāʻī cardiac, ka aorta a i ʻole nā ​​kīʻaha koko cerebral.

ʻO ke koʻikoʻi like ʻole

'Oko'a ka ma'i mai ka ma'i a i ka ma'i a 'o nā hō'ailona a pau i wehewehe 'ia he kaka'ikahi ka ma'i. Ma muli o kēia ʻano ʻokoʻa nui (heterogeneity), kahi hoʻohālikelike o nā ʻano o ka maʻi (Hoʻokaʻawale hāmau) hoʻohana ʻia a loaʻa nā ʻano ʻehā:

- ʻO ke ʻano I : nā ʻano haʻahaʻa maʻamau (kakaikahi nā haki a me nā deformations). ʻIke pinepine ʻia nā haʻihaʻi ma hope o ka hānau ʻana. ʻO ka nui kokoke i ka mea maʻamau. He uliuli ka sclera. ʻIke ʻia ka Dentinogenesis imperfecta ma ke ʻano IA akā ʻaʻole i loko o ka I B. Hōʻike nā x-ray iwi i kahi hiʻohiʻona kikoʻī (nā mokupuni o ka ossification irregular)

- ke ano II : nā ʻano koʻikoʻi, kūpono ʻole me ke ola (make) ma muli o ka hiki ʻole o ka hanu. Hōʻike ka X-ray i nā iwi ʻūlū lōʻihi (accordion femur) a me nā iwi ʻaoʻao rosary

- ʻano III : ʻano koʻikoʻi akā ʻaʻole make. ʻIke mua ʻia nā haʻihaʻi a ma mua o ka hānau ʻana; ʻO nā hōʻailona he deformity o ke kuamoʻo (kyphoscoliosis) a me ke kino pōkole. He ʻokoʻa ka waihoʻoluʻu o ka sclera. Loaʻa paha ka dentinogenesis maikaʻi ʻole.

- ʻano IV : no ke ko'iko'i waena ma waena o ke 'ano I a me ke 'ano III, ua 'ike 'ia e ka sclera ke'oke'o, deformations o nā iwi lō'ihi, iwi iwi iwi po'o a me ka iwi iwi'ao'ao (flattened vertebrae: platyspondyly). ʻAʻole paʻa ka Dentinogenesis imperfect.