Franceschetti maʻi pale: ke kumu, symptoms a me ka lapaau ana i ka maʻi

Franceschetti maʻi pale mea he autosomal Hoʻohaku maʻi wehewehe aku ma deformities-fascial lehalehu t wahi. Ua Ua hōʻike mua i loko o 1900 ma ka Beritania ophthalmologist Treacher Collins.

pathology ano

I ka maʻi ua wehewehe aku ma ke alo o ka hoʻomanawanui ka mau lehalehu t deformities. Mai ka pathology e hoʻomōhala ana i loko o utero, ma hope o ka hānau hiki ke kau Treacher Collins maʻi pale, Franceschetti.

Kēia maʻi i kona mau symptoms a aneane oki ae la loa i ke keiki mai ka hui, ana i kona ola hou pilikia, a ola. Developmental kāna hana o ka iwi'aʻaʻa a me ka ossification kumu ke koʻikoʻi lehalehu t asymmetry, ma muli o ia a ka auditory a me ka pelaha e luli ole mall pathology.

Franceschetti maʻi pale - he pohihihi keia aaiaoe kāna hana i ia lŘlŘ i ka 1 i ka 50.000 hanau. Oiai lapaau nepodvlasten hooponopono o aaiaoe mutations, no laila, inā 'oe i kekahi abnormalities i loko o ka ohana, e pono eʻoiaʻiʻo, e kipa i ka aaiaoe?, A e kōkua e hoʻomaulia i ka pahiki o ka ulu ana o ke keiki unborn o kekahi aaiaoe abnormalities.

Nā kumu o ka maʻi

? Ac? O ka mea maʻi ua pili me kaʻole fetal kūpono 'ana i loko o ke au o ka 6-7 pule. Aʻe 'ana i IIeEeAIEUIeXAIIUE i loko o ka embryonic hehee wale o ka mua halo o mua e pio.

Franceschetti maʻi pale hiki i loli iki degere o symptoms, mai e hoʻohoka e ikaika hoikeia pathologies o ka iwipoo. Ka maʻi pale ua ili ma ka autosomal Hoʻohaku kāna moʻolelo a me ka mai he kiʻekiʻe pakeneka o ka phenotypic hoikeana o na pathologies i loko o nā keiki.

Na hoailona o ka maʻi pale

Externally maka maʻi pale ua hoike ma kēlā 'oä, ka mea ma waho kihi o i i hōʻike' kēlā wā i kēia wā malama coloboma kenekulia (ʻaʻohe ona kuleana, o ka lalo a luna lihilihi), congenital cataracts, microphthalmia, paresis nāʻiʻo kuleana no ka maka ana.

Ma ka maxillofacial'ōnaehana malama hypoplasia o ka zygomatic iwi, luna a lalo iwi. E like me ka hopena, he nui asymmetry o ka maka, i kekahi manawa e noho ana i loko o nā mea maʻi mauae kīleo, paha e hookuke i ka 'ōlelo, ka hoʻopukaʻana i ka iaʻi o ka oropharynx, a ma o na la naehana maʻi.

Niho i pinepine underdeveloped, hoʻomano kau, aia no he pilikia me ka nahu. Hypoplasia o ka malalo o ka helehelena haawi ia i keʻano o ka manu. Ma pohihihi keia hihia, he mea ka make o ka nui koko barela, naau, underdevelopment, maloko hydrocephalus.

Franceschetti maʻi pale hiki ke differentiated mai dysplasia Goldenhaara. No keia pathology ano ulu i loko o ka helu ana o thoracic a lumbar vertebrae, ka'ā'ī synostosis, poho lohe, pathologies o ka 'ole o ka auditory meatus, ke'ō elelo, mauae kīleo.

Mehana maʻi pale i aneane ole mall loli i loko o ka lehalehu t aina, a me ka awelika umekaumaha - helu 'ia ma symptoms ua hoikeia selectively. Loa maʻi pale ua wehewehe aku ma ka piha kaawale o ke koho lehalehu t hiʻona i loko o nā keiki. Wahi a ka 'ikepili helu, lōpū maʻi pale pinepine hoikeia mai, akā, ma ka hapanui o na hihia i hiki ke hoʻopau mā ma eaʻoki kino.

Franceschetti maʻi pale: iapaau ana

E hana nā mea maʻi pono ka hoʻonaʻauao '' inikua kokoke loa i kahi. I ka papa kuhikuhiE pilikia o ka 'aʻe' ana o ka airway, moni 'ia, hihio a me ka lohe. Ma kekahi hihia mea paha e pono ai tracheostomy - i ka hana o ka dissection anterior tracheal pa.

Ma hope o gastrostomy (fistula i hanaʻia) lawe no kou kino, a me ka hoʻomanawanui hanu. Hiki hoʻoikaika 'ana i keʻano ma ka eaʻoki kino, akā, ka mea, ua hana ma ka noi a wale ma luna o hiki i kekahi makahiki.

ʻoki kino pono he gradual loli o ke ano a me ka hana anu u. Mā hiki ke eliminated i loko o kekahi mau makahiki, a hiki makahiki. Ma kekahi mau hihia, he mea hiki ole i ka hoʻoholo 'ia? Iaea o lehalehu t deformities, no laila, kauka maʻoki kino hiki wale iki ho'ēmi i symptoms a me ka hoʻoikaika' ana i ke ahonui o ka mea e like ai o ke ola.

Hoao mai ana e hoihoi lohe maʻoki kino (i ka pololei 'ole o ka auditory ossicles) i loko o ka hoʻomanawanuiʻana i ole i ka maikaʻi ia, no laila, e aho no ia mea, e hoʻohana kōkua iā ia, lohe, koho' ia ka nānā 'ana ma luna o kanaka, pathology a me na' ole o ka waena pepeiao.

Franceschetti maʻi pale: kiʻi o nā mea maʻi

Ka Hawaii photo hōʻike i kanaka me ka maʻi pale Treacher Collins i ole emiʻeleu ola ma mua o ola kanaka. Ka mea, aʻo eʻae oe ia oe iho, e aloha aku i kou maka, eager e kōkua ma ka ia na keiki nana i ole makemake e ola, a polontsenno makau, e hele mawaho, no o ke kahakaha ana o nā keiki.

ʻO ka loa ola makua e loaa i ke keiki me ka aaiaoe maʻi.

Ma nā kiʻi ma mua, a ma hope o eaʻoki kino, ke kaikamahine ike i ka nui like. No laila, hana ole o ka manao ma mua o ka manawa, e kau mai i kou lima. Oe ke mau loaʻa i ke ala, e hoʻoikaika 'ana i kā lākou mau helehelena.