ʻO ka cleidocraneal dysplasia (DCC) ʻo ia ka inoa o kahi maʻi e pili ana i kahi heluna kanaka liʻiliʻi loa a hiki i kēia manawa ʻaʻohe lāʻau lapaʻau i ʻike ʻia. ʻOiai ua manaʻo ʻia he maʻi genetic kakaʻikahi, ʻAʻole ʻike ʻia no ka poʻe pā o ke kīwī ʻo Stranger Things a ua lohe mua lākou e pili ana.
ʻO ke kumu, ʻo ka mea keaka e hāʻawi i ke ola Dustin Henderson i ka moʻo Netflix, Puka Matarazzo, ha confesado que la padece (e like me kona ʻano ma ka moʻo). Ma kēia ʻano ua puka mai ke kūlana mai ka inoa ʻole a ua ʻike ʻia ka mahalo i kēia ʻano.
He maʻi haʻahaʻa loa koʻu o ka cleidocranial dysplasia, no laila ʻaʻole ia e pili nui iaʻu, pero puede ser una enfermedad difícil. Puka Matarazzo
Akā, He aha kēia maʻi? He aha ka hope? He aha ke kumu a me ke ʻano o ka mālama ʻana? E wehe mākou i kēia mau kānalua ma lalo nei.
ʻO Cleidocranial dysplasia kahi maʻi e pili ana i ka ulu ʻana o nā iwi a pili pū i ka ulu ʻana o nā niho..
Ma ka 1766, ʻO ke kauka. Ua wehewehe mua ʻo Morand i kēia kūlana ma Farani. Ma hope aku 1897 ʻO nā neurologists ʻo Pierre Marie lāua ʻo Sainton e hōʻike nei he hoʻololi ʻokoʻa ʻē aʻe e pili ana i nā iwi o ka iwi poʻo a me ka ʻāpana clavicular..
I ka wā mua ua ʻike ʻia ma ka inoa ʻo "Marie-Sainton disease", akā i kēia lā, kapa lākou iā dysostosis a i ʻole cleidocranial dysplasia.
Papa kuhikuhi
ʻO nā kumu o ka dysplasia cleidocranial
He maʻi maʻi musculoskeletal hoʻoilina. Hōʻike ʻia nā haʻawina chromosomal hou e pili ana i ka mutation o ka gene CBFA1 / RUNX2., aia ma ka chromosome eono. Hoʻopili ʻia kēia gene i ka hoʻokumu ʻana o ka iwi me ka endochondral a me ka morphogenesis niho. ʻAʻohe manaʻo no ke kāne a me ka lāhui. ʻAʻole i hoʻokumu ʻia ka pilina ma waena o ka phenotype a me ka genotype.
Nā hōʻailona o ka dysplasia cleidocranial
Hiki i nā hōʻailona o kēia maʻi ke hoʻololi i ka paʻakikī e like me kēlā me kēia maʻi., i loko o ka ʻohana hoʻokahi. ʻOiai ʻo ka hapa nui o nā hihia he maʻalahi.
ʻO nā hōʻailona e hōʻike ana i kēia ʻano he underdevelopment a i ʻole ka nele (hypoplasia a i ʻole aplasia) o hoʻokahi a ʻelua paha clavicle a me nā hoʻololi ʻana o nā ʻauwae e like me: niho nui, agenesis a me ka lohi ʻana o ka niho niho.
ʻIke ʻia nā hiʻohiʻona maka no ka mea e hōʻike ana i nā iwi liʻiliʻi me kahi alahaka ihu haʻahaʻa a me ka palaka haiki.
He lohi ka puka ʻana o nā niho mua a ʻaʻole i piha. Hoʻopaneʻe pū ʻia ka niho lua a i ka pau ʻana, ʻino lākou a maikaʻi ʻole. He mea maʻamau nā niho supernumerary, ʻoi aku ma ka ʻaoʻao premolar.
ʻO nā maʻi me ka cleidocranial dysplasia he pōkole, ʻoi aku ka liʻiliʻi ma mua o 160 cm i nā kāne a 150 cm i na wahine.
Hiki iā mākou ke ʻike i kēia mau hōʻailona:
- Nā lima pōkole
- Lae koʻikoʻi a me ka ʻāwae
- Hiki i kekahi mau maʻi ke hoʻohui i nā poʻohiwi ʻelua i mua o ke kino
- Nā manamana lima pōkole
- Nā hui hypermobile
- Pilikia lohe
Hoʻomaʻamaʻa no ka cleidocranial dysplasia
ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau kūikawā e hoʻōla i kēia maʻi. Eia naʻe, ʻO ka manaʻolana ola no nā poʻe maʻi me nā hōʻailona liʻiliʻi he mea hoʻohiki. Hoʻohana ʻia nā lāʻau lapaʻau e hōʻoluʻolu i nā hōʻailona a hoʻomaikaʻi i ka maikaʻi o ke ola o nā maʻi..
Pono ka otologist e nānā i nā pilikia o ka lohe. Inā pili ka maʻi i ka ʻōlelo a me ka lohe, pono e hoʻomaka i kahi lapaʻau e nā mea lapaʻau haʻiʻōlelo.
Ua ʻike mua mākou i ka hapa nui o nā fontanelles e wehe ʻia i ke ola makua, Hoʻomaʻamaʻa ʻia ka lāʻau lapaʻau no kēia mau maʻi i mea e pale aku ai i kahi ʻeha intracranial ma muli o ka hopena ma ia wahi., iki iki.
Nā hoʻokolohua a me nā hoʻāʻo no Cleidocranial Dysplasia
Pono nā poʻe maʻi me ka cleidocranial dysplasia e hana i nā hoʻokolohua genetic kūpono, no ka mea, o ka hiki ana mai o ka ma'i i ka lakou poe mamo, no ka 50%.
X-ray o ka umauma a me ka iwi po'o
ʻaneʻane lawe mau ʻia nā pahu x-ray hoʻohui. ʻO ka radiograph posteroanterior (PA) hōʻike ʻo thoracic i nā ʻano o kēia maʻi:
- pahu puhi
- ʻO Aplasia a i ʻole hypoplasia o nā clavicles
- Liʻiliʻi scapulae, pōkole a ʻēheu
I loko o ka lekiō iwi poʻo i hiki ke ʻike ʻia nā anomalies o ka maʻi, penei:
- ʻO ka hoʻonui ʻole ʻia o ka pōʻai poʻo
- Brachycephaly kūlana (ʻo ke poʻo o ke poʻo me ka palahalaha o ke kua o ke poʻo)
- ʻO ka hypertelorism o ka maka (ʻoi aʻe ma mua o ka hoʻokaʻawale maʻamau ma waena o nā maka maka)
- Nā māwae palpebral antimongoloid
- Aplasia maxillary luna
Lekiō waha
Pēlā nō, ʻo ka mea maʻi me ka cleidocranial dysplasia pono e hana i kahi hoʻokolokolo intraoral., e ike:
- Hoʻopaneʻe i ka hū ʻana o ka niho
- Ka paʻa o nā niho mua
- Agenesis a i ʻole ka hoʻomohala hewa ʻana o ka maxilla
- Polika
- Oval palale, ma muli o ka iwi ā luna haiki
- Prognatismo mandibular
Manaʻo ʻia ka Orthopantomography e kāpae i ka paʻa ʻana o ka niho mua a i ʻole he lohi i ka hū ʻana o ka niho hope., nā niho supernumerary a me ka agenesis lateral. Hana i nā haʻawina radiographic panoramic me nā mea hana orthopantomography e ʻike ai i ka odontoma.
Hiki ke hōʻike pinepine i ka moʻolelo olakino ʻohana o cleidocranial dysplasia:
- Ka hoʻomohala ʻana o ka clavicle
- Ka hoʻomohala ʻana o ka ʻūhā poʻohiwi
- ʻAʻole hiki ke pani i nā fontanelles
ʻO ka ʻike o ka cleidocranial dysplasia
He aha hou aku, ʻO ka poʻe me kēia maʻi he haʻahaʻa ka iwi iwi (osteopenia) a ke ulu nei ka osteoporosis. Ma lalo o kēia ʻano, ʻoi aku ka palupalu a me ka palupalu nā iwi i ka wā ʻōpiopio..
I ka hihia koʻikoʻi, pilikia paha ke keiki i ka hoʻomohala ʻana i nā mākau kaʻa maʻamau o ka makahiki, e like me ka kolo a me ka hele wāwae.