Franceschetti syndrome: amachititsa, zizindikiro ndi mankhwala a matenda

Franceschetti Syndrome ndi autosomal lalikulu matenda yodziwika ndi deformities-fascial m'dera nkhope. Choyamba anafotokoza mu 1900 ndi maso British Treacher Collins.

kudwala khalidwe

Matendawa ali ndi makhalidwe oipa pamaso pa deformities wodwalayo angapo nkhope. Popeza kudwala akufotokozera mu utero, atabadwa akhoza anapereka syndrome Treacher Collins, Franceschetti.

Matenda ali ndi zizindikiro zake ndi pafupifupi kwathunthu anadula mwana kwaokha, kupanga moyo wake kovuta chopweteka. matenda kakulidwe fupa minofu ndi ossification chifukwa chaukali nkhope asymmetry, chifukwa chimene Makutu ndi zooneka kukhala zosasintha structural kudwala.

Franceschetti syndrome - ochepa chabe majini matenda amapezeka 1 mu 50,000 kubadwa. Ngakhale mankhwala nepodvlasten kulamulira masinthidwe chibadwa, choncho ngati muli ndi kuvutika aliyense m'banja, muyenera kuwonetsetsa kuti akayendere chibadwa, zimene zingakuthandizeni kudziwa Mwina wa chitukuko cha mwana wosabadwa wa kuvutika iliyonse majini.

The zimayambitsa matenda

Development wa matenda amagwirizana ndi mkhutu yoopsa chitukuko mu nthawi ya masabata 6-7. Kuphwanya ali isanafalikire mu nyengo embryonic wa woyamba gill Chipilala.

Franceschetti syndrome mwina amakhala osiyana matendawa kuchokera samveka kuti kwambiri anasonyeza pathologies a Chigaza lapansi. syndrome ndi tinatengera mu autosomal lalikulu khalidwe ndipo ali amaposa cha mawonetseredwe phenotypic wa pathologies chimenechi mwa ana.

Zizindikiro za matendawa

Kunja diso syndrome popewa slits oblique, ngodya akunja amene zasiyidwa zina anati coloboma m'ma (mbali ya m'munsi kapena chapamwamba chikope), ng'ala kobadwa nako, microphthalmia, paresis minofu udindo diso kayendedwe.

Mu dongosolo maxillofacial anati hypoplasia wa ku zygomatic fupa, chapamwamba ndipo m'munsi nsagwada. Chifukwa, ndi asymmetry kwambiri ya nkhope, nthawi zina pano odwala abadwe, mwina akukankha chinenero zimathandiza kuti kutsekeka kwa oropharynx ndi kuchititsa matenda kupuma.

Mano nthawi zambiri underdeveloped, ambiri anapereka, pali vuto ndi kuluma ndi. Hypoplasia za mmunsi mwa nkhope akuupereka ngati mbalame. Nthawi zina, pali chiwonongeko cha migolo lalikulu magazi, mtima, underdevelopment, hydrocephalus mkati.

Franceschetti syndrome angathe kusiyanitsidwa ndi dysplasia Goldenhaara. Pakuti ichi kudwala khalidwe kuchuluka kwa thoracic kapena lumbar vertebrae khosi synostosis, kumva imfa, pathologies wa Kapangidwe ka meatus Makutu, forked lilime, abadwe.

syndrome wofatsa ali pafupifupi palibe kusintha structural m'dera nkhope, ndi yokoka pafupifupi - zizindikiro kutchulidwa chimaoneka kusankha. syndrome aakulu wofanana ndi anasiya osankhidwa nkhope ana. Malinga ndi kafukufuku, syndrome zolimbitsa zambiri kuwonetseredwa, koma nthawi zambiri zingatheke kuthetsa zopindika ndi opaleshoni pulasitiki.

Franceschetti syndrome: Chithandizo

Kuchiza odwala amafunika interdisciplinary njira zachipatala. The vuto lalikulu ndi kuphwanya airway ndi kumeza masomphenya kumva. Nthawi zina kungakhale kofunika tracheostomy - machitidwe a kung'ambika zapambuyo tracheal khoma.

Pambuyo gastrostomy (fistula anapanga) analengeza zakudya ndi kupuma mtima. Kodi kusintha maonekedwe ndi opaleshoni pulasitiki, koma zachitika pa pempho ndi kokha pa kufika msinkhu winawake.

Opaleshoni amafuna kusintha maonekedwe ndi sitepe chithandizo. Zopindika angathe kuthetsedwa mu zaka zingapo kapena zambiri. Nthawi zina, sikutheka kumaliza kuwukonza deformities nkhope zimenezi madokotala kupyolera opaleshoni zitha pang'ono kuchepetsa zizindikiro ndi kusintha khalidwe la moyo wodwalayo.

Kuyesa kubwezeretsa kumva kupyolera opaleshoni (dongosolo lolondola la ossicles Makutu) odwala sanali ndi zotsatira zabwino, choncho ndi bwino chifukwa cha ichi ntchito zothandizira kumva, anasankha zochokera kudwala munthu ndi dongosolo mkati mwa khutu pakati.

Franceschetti syndrome: zithunzi za odwala

chithunzi limasonyeza kuti anthu ndi matenda Treacher Collins si layamba moyo kuposa anthu athanzi. Iwo kuphunzira kuvomereza nokha, chikondi nkhope yanu, akufunitsitsa kuthandiza ana yemweyo amene alibe mtima wofuna kukhala ndi polontsenno mantha kupita kunja chifukwa cha akumunyoza ana ena.

Ngakhale makolo wathanzi kwathunthu angalandire mwana matenda chibadwa.

Pa zithunzi pamaso ndipo pambuyo opaleshoni pulasitiki, mtsikana ndinawona kusiyana kwambiri. Choncho musataye mtima asanabadwe kuika manja anu. Inu nthawi zonse kupeza njira kusintha maonekedwe awo.