UFranceschetti syndrome: kubangela, izimpawu kanye nokwelashwa isifo

UFranceschetti Syndrome kuyinto autosomal isifo evelele libhekene indawo sengozini-fascial ebusweni. Waqale ezichazwe 1900 yi ophthalmologist British Treacher Collins.

zokugula isici

Lesi sifo libhekene khona sengozini lesiguli amaningi ebusweni. Kusukela zokugula eba utero, ngemva kokuzalwa lingasethwa Treacher Collins syndrome, uFranceschetti.

Lesi sifo inezimpawu ayo futhi cishe ancamuka ingane umphakathi, okwenza ukuphila kwakhe nzima futhi kabuhlungu. iziyaluyalu yokuthuthuka ithambo izicubu kanye Ukuqina sekuyenzeka imbangela ezinzima asymmetry ebusweni, ngenxa okuyinto izinsiza sokuzwa nokubukwayo babe engaguquki zokugula kwesakhiwo.

UFranceschetti syndrome - a sifo esingavamile esidluliselwa ngofuzo ezenzeka 1 e 50,000 ukubeletha. Nakuba ukulawula imithi nepodvlasten ka ukuguquka kwezakhi zofuzo, ngakho uma unanoma iluphi uhlobo kwezinso emkhayeni, kumelwe uqiniseke ukuthi uvakashela zofuzo, ozokusiza ukubala ematfuba ukuthuthukiswa wengane ongakazalwa kwanoma iyiphi kwezinso zofuzo.

Izimbangela isifo

Ukuthuthukiswa lesi sifo lihlotshaniswa kahle kwengane esiswini kuleli isikhathi esingamasonto 6-7. Ukwephulwa kuthiwa zendawo izakhi-embryonic wokuqala gill lwaleli.

UFranceschetti syndrome zingase babe ntshashintshe izimpawu, kusukela okunzima uzwakalise kakhulu pathologies Yekhanda. Lesi sifo sitholwa njengefa ku- autosomal imfanelo evelele futhi iphesenti eliphezulu ukubonakaliswa phenotypic ka pathologies anjalo izingane.

Izimpawu yalesi sifo

Ngaphandle iso syndrome kuboniswa izimbotshana etshekile, emagumbini yangaphandle zazo angawabalanga ngezikhathi waphawula coloboma ekhulwini (abayona ingxenye ijwabu leso engezansi noma engenhla), lolu ngwengwezi azalwa naso, microphthalmia, imisipha paresis obhekene iso ukunyakaza.

Kuhlelo maxillofacial waphawula hypoplasia ka ithambo zygomatic, yasenhla nemithombo yasenzansi emhlathini. Ngenxa yalokho, i-asymmetry abalulekile ebusweni, ngezinye izikhathi ekhona iziguli ulwanga emfantwini, mhlawumbe baphokophelele ulimi, sandla isimiso we oropharynx futhi abangela izifo zokuphefumula.

Amazinyo ngokuvamile ampofu, setha kabanzi, kunenkinga nge bite. Hypoplasia ka engxenyeni engezansi ebusweni ulunika uhlobo inyoni. Ezimweni ezingavamile, kukhona ukubhujiswa imiphongolo ezinkulu igazi, inhliziyo, nokungathuthuki, iphimbo yangaphakathi.

UFranceschetti syndrome kungenziwa umahluko kusuka dysplasia Goldenhaara. Ngenxa yalesi zokugula ukwanda isici kunombolo amathambo thoracic noma lumbar, le synostosis entanyeni, ukulahlekelwa ukuzwa, pathologies isakhiwo we meatus sokuzwa, ulimi olunjengemfoloko, ulwanga emfantwini.

Ezintsha syndrome has cishe awekho izinguquko ezihlelekile esifundeni ebusweni, nge adonsela phansi isilinganiso - izimpawu ezibalwe sivezwe ngokukhetha. Sinzima syndrome libhekene ukungabi oluphelele izici ezikhethiwe kobuso izingane. Ngokwezibalo, syndrome ngokulinganisela Ngokuvamile ubonakaliswa isimo sengqondo, kodwa ezimweni eziningi kungenzeka ukuqeda ukukhubazeka nge ukuhlinzwa isikhumba.

UFranceschetti syndrome: Ukwelashwa

Ukuze ekwelapheni iziguli kudinga indlela yezokwelapha imikhakha eyahlukene. Inkinga eyinhloko kokunikezwa kwe-umgudu, ukugwinya, umbono nokuzwa. Kwezinye izimo kungase kube tracheostomy kudingekile - ekusebenzeni asike izidumbu zabantu anterior tracheal udonga.

Ngemva gastrostomy (fistula kwakhiwa) eyenziwa umsoco futhi ukuphefumula nesineke. Can ngcono ukubukeka ngu ukuhlinzwa plastic, kodwa kwenziwa isicelo kanye kuphela lapho efika eminyakeni ethile.

Ukuhlinzwa kudinga ushintsho kancane kancane ukubukeka isinyathelo ukwelashwa. Ukuphazamiseka kwekhono luqedwe eminyakeni embalwa, noma ngisho emashumini eminyaka. Kwezinye izimo akunakwenzeka ukuqedela yokulungiswa sengozini ebusweni, ngakho odokotela ngokusebenzisa ukuhlinzwa kungaba kuphela kancane banciphise izimpawu eziwumphumela wokugula futhi bathuthukise izinga lesiguli zokuphila.

Imizamo ukubuyisela kokuzwa ngokusebenzisa ukuhlinzwa (isakhiwo efanele ossicles sokuzwa) ku iziguli akazange nethonya elihle, ngakho-ke kungcono le njongo ukusebenzisa izinsiza kokuzwa, ezisuselwe zokugula ngabanye kanye Sakhiwo sangekhatsi maphakathi nendlebe.

UFranceschetti syndrome: izithombe iziguli

Isithombe esibonisa ukuthi abantu kanye syndrome Treacher Collins akuzona ukuphila ngaphansi asebenzayo kunabantu enempilo. Bafunda ukwamukela ngokwakho, abathanda ubuso bakho, bemagange ukusiza izingane efanayo abangenalo nesifiso sokuphila polontsenno besaba ukuphumela phandle ngenxa ekuklolodelweni nezinye izingane.

Ngisho nabazali engumqemane ingathola ingane nge isifo esidluliselwa ngofuzo.

On izithombe ngaphambi nangemva ukuhlinzwa plastic, intombazane kubonakala umehluko okukhulu. Ngakho, ungalilahli ithemba ngaphambi kwesikhathi ukubeka izandla zakho. Ungahlala ukuthola indlela ukuze uthuthukise ukubukeka kwabo.