Franceschetti syndrome: ai, tohu me te maimoatanga o te mate

Franceschetti Syndrome Ko te mate tino autosomal āhuatanga e wāhi kanohi deformities-fascial. I whakaahuatia tuatahi te reira i roto i 1900 i te ophthalmologist Ingarangi Treacher Collins.

āhuatanga māuiuitanga

huru no te mate e te aroaro o deformities kanohi maha o te manawanui. Mai whakawhanake te māuiuitanga i utero, i muri i whanau taea te whakaturia Treacher Collins syndrome, Franceschetti.

He tenei mate ona ake tohu, me te tata rawa hatepea atu te tamaiti i te hapori, hanga ake uaua tona ora, me te mauiui. disorders whanaketanga o te wheua kikokiko me te take ossification nui karawhiti kanohi, e tika ana ki nei nga taonga māna, me te ataata hei taui māuiuitanga hanganga.

Franceschetti syndrome - he mate onge iranga e puta i roto i te 1 i roto i te 50,000 whakatupuranga. Ahakoa mana rongoa nepodvlasten o irakētanga ira, na ki te whai koe i tetahi abnormalities i roto i te utuafare, me waiho e koe mohio ki te haere ki te iranga, e e tauturu i ki tātai i te tūponotanga o te whanaketanga o te tamaiti e parauhia te o tetahi abnormalities ira.

Ko te take o te mate

e pā ana te whanaketanga o te mate e ki waimaero whanaketanga fetal i te wā o te 6-7 wiki. E paetata maumaui i roto i te āhuatanga embryonic o te tuatahi kikorangi pihapiha.

kia whai Franceschetti syndrome taumata o tohumate, i kerekere ki kaha te whakaputa pathologies o te angaanga. riro te syndrome te i roto i te huaira ngoi autosomal me he ōrau nui o nga mau faaiteraa tohuāhua o taua pathologies i roto i ngā tamariki.

Signs o te syndrome

Waho whakaaturia syndrome kanohi e Kosi matahao, kua mahue wā kitea waho nga koki o e rau coloboma (kahore wahi o te kamo o raro o runga ranei), awhiowhio wai congenital, microphthalmia, uaua paresis kawenga mō te kaupapa kanohi.

I roto i te pūnaha maxillofacial kitea hypoplasia o te wheua zygomatic, i runga, me te raro kauae. Ka rite ki te hua, he karawhiti nui o te mata, i ētahi wā i roto i te tūroro mangai ngatata, pea e aki ana i te reo, whai wāhi ki te tutukitanga o te pū māngai me meinga mate romahā.

He maha underdeveloped, whānui whakaturia niho, i reira te mea he raruraru ki te ngau. Hypoplasia o te wahi o raro o te mata homai reira he ahua o te manu. I roto i te wā onge, i reira he whakangaromanga o oko, nui toto, ngakau, underdevelopment, wairoro ā-.

Ka taea te rerekëtanga Franceschetti syndrome i dysplasia Goldenhaara. Hoki tenei māuiuitanga hua āhuatanga i roto i te maha o te pekehoe rei lumbar ranei, te synostosis kaki, rongo mate, pathologies o te hanganga o te meatus māna, arero paoka, mangai ngatata.

He syndrome ngawari tata kahore huringa hanganga i roto i te rohe kanohi, me te mahara toharite - whakahuatia tohu whakarārangitia te tīpakongia. āhuatanga syndrome Pākaha e te ngaro oti o nga āhuatanga kanohi tīpakohia i roto i ngā tamariki. E ai ki ngā tatauranga, maha whakakitea syndrome āhua, engari i roto i nuinga o te wā ka taea ki te whakakore i hē i te pokanga kirihou.

Franceschetti syndrome: Treatment

titau huarahi whitinga hauora ki te hamani tūroro. Ko te raruraru matua ko te ofatiraa o te airway, horomia, kite me te rongo. I roto i ētahi wā kia reira tracheostomy tika - te mahi o te tuakitanga mārōrō taiepa tracheal.

I muri i gastrostomy (fistula i hanga) kawea kai tōtika me te manawa manawanui. E taea te whakapai ake i te ahua i te pokanga kirihou, engari kua mahia ki runga ki tono, me te anake ki runga ki pa tetahi tau.

titau pokanga he huringa āta o ahua me te taahiraa maimoatanga. Ka taea te whakakorea mea kohakore, i roto i te tau torutoru, ara tekau tau ranei. I roto i ētahi wā, e kore e taea ki te whakaoti i te ako o deformities kanohi, na tākuta roto pokanga taea anake paku whakaiti tohumate me te whakapai ake i te kounga o te manawanui o te ora.

Nganatanga ki whakahokia rongo i roto i te pokanga (ki te hanganga tika o te ossicles māna) i roto i te tūroro kihai i whai i te pānga pai, na he pai hoki ki tenei whakaaro whakamahi rongo taonga, tīpakohia i runga i māuiuitanga takitahi me te hanganga ā-o te taringa waenga.

Franceschetti syndrome: whakaahua o tūroro

E whakaatu ana te whakaahua e te iwi ki te syndrome Treacher Collins kore e ora iti kaha i te mau taata hauora. ako rātou i ki te whakaae koe, aroha koutou mata, vēkeveke ki te āwhina i roto i te tamariki ano e kahore hiahia ki te ora me te polontsenno wehi ki te haere ki waho, no te o te manuki o tahi atu tamariki.

Ahakoa kia he mātua tino hauora riro te tamaiti ki te mate ira.

I runga i nga whakaahua i mua me muri pokanga kirihou, te kotiro kite te rerekētanga nui. Na reira, e kore mahi hepohepo i mua i te wa ki te hoatu o koutou ringa. Ka taea e kitea tonu koe i te ara ki te whakapai ake i to ratou ahua.