ʻO kahi maʻi maʻi laha ʻole, Kumu-Collins Syndrome ʻike ʻia e ka ulu ʻana o nā kīnā hānau o ka iwi poʻo a me ka maka i ka wā o ke ola embryonic, e hopena ana i nā deformities o ka maka, nā pepeiao a me nā maka. ʻOi aku ka liʻiliʻi a ʻoi paha ka hopena o ka hopena a me nā hopena hana a koi kekahi mau hihia i nā hana he nui. Eia nō naʻe, i ka hapanui o nā hihia, mālama ka mālama ʻana i kahi ʻano o ke ola e mālama ʻia.

ʻO Treacher-Collins Syndrome (i kapa ʻia ma hope o Edward Treacher Collins, ka mea nāna i wehewehe mua iā ia i ka makahiki 1900) kahi maʻi kūlohelohe loa i hōʻike ʻia iā ia iho mai ka hānau ʻana me nā ʻano malformation o ka ʻaoʻao haʻahaʻa o ke kino. maka, maka a me nā pepeiao. ʻO nā hoʻouka he lua a me symmetrical.

Kāhea ʻia kēia maʻi ʻo Franceschetti-Klein Syndrome a i ʻole mandibulo-alo dysostosis me ka pau ʻole o nā mea kūpono ʻole.

Nā kumu

ʻEkolu mau gen i ʻike ʻia e pili ana i kēia maʻi.

• ka moʻokūʻauhau TCOF1, aia ma ka chromosome 5,
• nā lālani POLR1C a me POLR1D, aia ma nā chromosome 6 a me 13 pakahi.

Kuhi kēia mau gen i ka hana ʻana o nā protein i hana nui i ka ulu ʻana o ka embryonic o nā hanana helehelena. Hoʻopilikia kā lākou hoʻololi ʻana ma o ka mutation i ka ulu ʻana o nā hanana iwi (ʻo ka hapa nui o nā ā lalo a luna a me nā cheekbones) a me nā mea palupalu (nā ʻiʻo a me nā ʻili) o ka ʻaoʻao haʻahaʻa o ka maka i ka lua o ka mahina o ka hānau ʻana. Hoʻopili pū ʻia ka pinna, ka aʻa pepeiao a me nā ʻano o ka pepeiao waena (ossicles a me / a i ʻole eardrums).

PalekanaEND_LINK

Hiki ke kānalua ʻia nā helehelena helehelena mai ka ultrasound o ka lua o ka trimester o ka hāpai ʻana, keu hoʻi i nā hihia o nā hanaʻino pepeiao nui. I kēia hihia, e hoʻokumu ʻia ka hōʻike prenatal e kahi hui multidisciplinary mai ke kiʻi resonance magnet (MRI) o ka fetus, e ʻae i nā malformations e ʻike ʻia me ka pololei hou aʻe.

ʻO ka hapanui o ka manawa, hana ʻia kahi hōʻailona e kahi hoʻokolohua kino i hana ʻia ma ka wā hānau a ma hope koke paha. Ma muli o ka loli nui o nā malformations, pono e hoʻopaʻa ʻia i kahi kikowaena loea. Kauoha ʻia kahi hoʻāʻo genetika ma kahi hāpana koko e nānā no nā ʻano kūlohelohe e pili ana.

ʻIke ʻole ʻia kekahi mau ʻano ʻoluʻolu a e ʻike ʻia paha me ka lohi, no ka laʻana ma hope o ke ʻano o kahi hihia hou i ka ʻohana.

Ke hana ʻia ke kuhi, ua hoʻokau ʻia ke keiki i kahi papa o nā hoʻokolokolo hou aʻe:

• kiʻi kiʻi (x-ray, CT scan a me MRI),
• nā hoʻāʻo pepeiao a me nā hoʻolohe hoʻolohe ʻana,
• loiloi hihiʻo,
• e ʻimi no ka ʻoki ʻana o ka hiamoe (polysomnography)…

Pili ka poʻe

Manaʻo ʻia ʻo Treacher-Collins Syndrome e hoʻopili i hoʻokahi ma 50 mau keiki hānau hou, nā kaikamahine a me nā keikikāne. Ua manaʻo ʻia aia ma kahi o 000 mau hihia hou i kēlā me kēia makahiki ma Palani.

Nā mea pilikino

Koi ʻia ka ʻōlelo aʻoaʻo genetic i loko o ke kikowaena kikoʻī e loiloi i nā makaʻu o ka hoʻoili kūlohelohe.

Ma kahi o 60% o nā hihia i hōʻike ʻia i kahi kaʻawale: ʻo ke keiki ka mea maʻi mua ma ka ʻohana. Hana ʻia nā malformation ma hope o kahi ulia kūpuna i pā i kekahi a i ʻole o nā hunaola hānau e pili ana i ka momona ("de novo" mutation). E hoʻoili ʻia ka moʻokūʻauhau i kāna poʻe mamo, akā ʻaʻohe pilikia iki no kāna mau kaikaina. Eia nō naʻe, pono e nānā inā ʻaʻole ʻeha maoli kekahi o kona mau mākua i kahi ʻano liʻiliʻi o ka maʻi a lawe i ka hoʻololi me ka ʻike ʻole.

I nā hihia ʻē aʻe, hoʻoilina ka maʻi. ʻO ka hapanui pinepine, ʻo ka makaʻu o ka lawe ʻana hoʻokahi i loko o ʻelua me kēlā me kēia hāpai keiki, akā ke kaukaʻi ʻia i nā hoʻololi ʻana, aia kekahi mau ʻano o ka lawe ʻana. 

ʻO nā hiʻohiʻona o ka poʻe i hoʻopilikia ʻia he ʻano pinepine ia, me ka auwae atrophied a me ka hemo ʻana, nā papalina papalina ʻole, nā maka i hili i lalo i nā luakini, nā pepeiao me ka pavilion liʻiliʻi a hemmed maikaʻi ʻole ʻia, a i ʻole nalo loa ...

Pili nā ʻōuli nui i nā malformations o ke ao ENT:

Nā pilikia hanu

Hānau ʻia nā keiki he nui me nā ala kūiki o luna a hāiki nā waha hāmama, me kahi ʻāpana waha liʻiliʻi i keakea ʻia e ka alelo. No laila nā pilikia hanu nui i nā keiki hānau hou a me nā pēpē, i hōʻike ʻia e ka hū ʻana, ka hiamoe a me ka hanu nawaliwali loa.

ʻAi paʻakikī

I nā pēpē, hoʻopilikia ʻia ka hānai ʻana i ka waiū e ka paʻakikī i ka hanu ʻana a me nā mea maʻamau ʻole o ka pā a me ka palate palupalu, i kekahi manawa hoʻokaʻawale ʻia. ʻOi aku ka maʻalahi o ka hānai ʻana ma hope o ka hoʻolauna ʻia ʻana o nā meaʻai paʻa, akā hiki i ka nī ʻana ke paʻakikī a maʻa mau nā pilikia niho.

Pono maoli

ʻO ka hoʻolohe ʻole i ka hoʻolohe ʻana ma muli o nā malformations o ka pepeiao i waho a i waena paha aia ma 30 a 50% o nā hihia. 

Nā haunaele ʻike

ʻO ka hapakolu o nā keiki e ʻeha i ka strabismus. ʻIke mamao paha kekahi, hyperopic a astigmatic paha.

Nā pilikia aʻo a me nā kamaʻilio ʻana

ʻAʻole kumu ʻo Treacher-Collins Syndrome i ka hemahema o ka ʻike, akā ʻo ke kuli, nā pilikia ʻike, nā pilikia ʻōlelo, nā hopena psychological o ka maʻi a me nā haunaele i hoʻokomo ʻia e ka mālama olakino nui pinepine hiki ke hoʻolohi. ʻōlelo a paʻakikī e launa pū.

Mālama mālama

Pono paha ke kākoʻo hanu a me / a i ʻole ka hānai ʻana o ka Tube e kōkua i ka hanu ʻana a me ka hānai ʻana i ke pēpē, i kekahi manawa mai ka hānau ʻana. Ke mālama ʻia ke kōkua hanu i ka hala ʻana o ka manawa, hana ʻia kahi tracheotomy (wehe liʻiliʻi i ka trachea, ma ka ʻāʻī) e hoʻolauna i kahi pūkula e hōʻoia pono ana i ka hele ʻana o ka ea ma nā kahawai.

ʻOki lāʻau lapaʻau o nā malformations

ʻOi aku ka liʻiliʻi a paʻakikī paha o nā hana ʻoki ʻana, e pili ana i ka palahalaha, nā ʻāʻī, ka ʻūlū, nā pepeiao, nā lihilihi a me ka ihu ke noi ʻia e kōkua i ka ʻai ʻana, ka hanu ʻana a i ʻole ka hoʻolohe ʻana, akā e hoʻoliʻiliʻi hoʻi i ka hopena maikaʻi o nā malformations.

Ma ke ʻano he hōʻailona, ​​pani ʻia nā ʻāpana o ka lepe palupalu ma mua o ka piha ʻana o 6 mau mahina, nā kaʻina hana cosmetic mua ma nā lihilihi a me nā papalina mai 2 makahiki, ka hoʻolōʻihi ʻia ʻana o ka mandible (distribible mandibular) i 6 a i ʻole 7 mau makahiki. ka pinna pepeiao ma kahi o 8 mau makahiki, ka hoʻonui ʻana o nā aʻa hoʻolohe a me / a i ʻole ke ʻoki ʻana o nā ossicle ma kahi o 10 a 12 mau makahiki ... Hiki ke hana ʻia nā hana ʻoki cosmetic ʻē aʻe i ka ʻōpio ...

Kōkua kōkua

Hiki ke loaʻa nā kōkua lohe i kekahi manawa mai ka makahiki o 3 a i ʻole 4 mau mahina ke pili ka kuli i nā pepeiao ʻelua. Loaʻa nā ʻano like ʻole o nā hoʻokamakama ma muli o ke ʻano o ka poino, me ka maikaʻi maikaʻi.

ʻO ka ukali olakino a me paramedical

I mea e kaupalena ai a pale ai i ke kīnā ʻole, multidisciplinary ka mālama pinepine ʻana a kāhea aku i nā loea like ʻole:

• ENT (kiʻekiʻe kamepiula o ka maʻiʻaʻai)
• Ophthalmologist (hoʻoponopono i nā haunaele ʻike) a me ka orthoptist (hoʻōla maka)
• Dentist a me ka orthodontist
• Luna ʻ Spelelo ...

Pono pinepine ke kākoʻo psychological a me ka hoʻonaʻauao.