Franceschetti syndrome: ebangela, iimpawu kunye nonyango lwe sifo

Franceschetti Syndrome yi autosomal sisifo lubalaseleyo luphawulwa sengozini-fascial indawo ebusweni. Kuye kuchazwe okokuqala ngo-1900 yi-zamehlo yaseBritani Treacher Collins.

zokugula Uphawu

Esi sifo sizibonakalisa bubukho sengozini yobuso ezininzi yesigulana. Ekubeni leengxaki iphuhlisa Esibelekweni, emva kokuzalwa zingasetwa Treacher Collins syndrome, Franceschetti.

Esi sifo uneempawu zayo kwaye phantse kunqunyulwa ngokupheleleyo off umntwana kuluntu, ukwenza ubomi bakhe nzima ngakumbi buhlungu. izifo yoPhuhliso esiqwini bone kunye kwamathambo kubangela kakhulu asymmetry yobuso, ngenxa apho izixhobo eziviwayo kunye nezibonwayo zibe ngezifo lecebo zesakhiwo.

Franceschetti syndrome - a sifo ukuba kwenzeka ngo-1 ngo-50,000 ezizalwayo. Nangona ukulawula amayeza nepodvlasten ka kwiDNA, ngoko ukuba unayo nayiphi na ukungaqheleki entsatsheni, kufuneka uqinisekise ukutyelela yemfuza, nto leyo eya kunceda ukubala amathuba uphuhliso usana olungekazalwa nayiphi na ukungaqheleki yemfuza.

Izinto ezibangela izifo

Uphuhliso kwesi sifo lu dityanisiwe Palsy kakuhle kwithuba leeveki 6-7. Ukunyhashwa abekiwe nezinto osandul lokuqala kwinqugwala dj.

Franceschetti syndrome banokuba kumanqanaba angafaniyo iimpawu, ukusuka ayicacanga ukuba ichazwe ngamandla ezimbi intamo. Esi sifo into njengelifa kulo autosomal phawu lubalaseleyo kwaye ipesenti ephezulu wabonakala phenotypic of ezimbi ezo ebantwaneni.

Iimpawu ze onaso

Ngaphandle iliso syndrome buboniswa slits elibhalwe ngokumileyo, iikona zangaphandle apho abaquke wambi wabona ngenkulungwane coloboma (akukho inxalenye ijwabu aphantsi okanye phezulu), cataract, microphthalmia, izihlunu paresis intshukumo eye.

Kwinkqubo maxillofacial saphawula hypoplasia ye wethambo zygomatic, eliphezulu nolusezantsi umhlathi. Ngenxa yoko, asymmetry ebalulekileyo ubuso, ngamanye amaxesha ndikho izigulane inkalakahla zicandeke izihlambo, mhlawumbi ihlaba ulwimi, igalelo ekuphazamiseni le oropharynx kunye ebangela izifo zemiphunga.

Amazinyo badla ngokwaneleyo, ngokubanzi beka, kukho ingxaki kukulunywa. Hypoplasia inxalenye esezantsi ebusweni ulunika uhlobo yeentaka. Kwiimeko ezinqabe kakhulu, kukho ukutshatyalaliswa kwemigqomo emikhulu igazi, intliziyo, nokungaphuhli, hydrocephalus lwangaphakathi.

Franceschetti syndrome kokuba umahluko kusuka dysplasia Goldenhaara. Ngokuba lo leengxaki kwanda uphawu kwinani omqolo thoracic okanye empontshwa, lo synostosis entanyeni, ilahleko ukuva, ezimbi ze isakhiwo meatus ezikhalayo, ulwimi olusabufolokhwe, inkalakahla emqhokrweni wengxondorha.

Nobulali syndrome inamalunga akukho utshintsho kumaziko kummandla yobuso, kunye benokundileka avareji - iimpawu odwelisiweyo kubonakaliswa zikhethwe. Ezimandundu syndrome luphawulwa ukungabikho ngokupheleleyo iimpawu ezikhethiweyo yobuso ebantwaneni. Ngokutsho manani, ngcathu syndrome ngokufuthi wabonakalaliswa, kodwa ke kwiimeko ezininzi lula ukuphelisa iziphene yi uqhaqho zeplastiki.

Franceschetti syndrome: Treatment

Ukunyanga izigulana kufuna indlela zonyango ahlukeneyo. Eyona ngxaki inkulu kukwaphula ngokuma, igwinya, umbono kunye nokuva. Kwezinye iimeko kusenokuba yimfuneko tracheostomy - kukusebenza asike cipande tracheal eludongeni.

Emva gastrostomy (fistula kuyilwa) bayithwala ngesondlo kunye nokuphefumla nomonde. Ngaba ukuphucula zavela uqhaqho zeplastiki, kodwa oko kwenziwe isicelo kuphela akuba kwiminyaka ethile.

Surgery kufuna utshintsho chu imbonakalo kunye inyathelo unyango. Iziphene lupheliswe kwiminyaka embalwa, okanye amashumi eminyaka. Kwezinye iimeko, akunakwenzeka ukuba ugcwalise ulungiso sengozini yobuso, ngoko oogqirha nge utyando kuphela ukunciphisa kancinane iimpawu nokuphucula umgangatho yesigulane yobomi.

Imizamo ukubuyisela ukuva nge uqhaqho (ukuba isakhiwo oluchanekileyo ossicles ekuva) kwi izigulane zange abe nempembelelo entle, ngoko ke kungcono ukuba le njongo ukusebenzisa izixhobo ukuva, ezikhethiweyo ngokusekelwe ngezifo ngamnye isakhiwo lwangaphakathi nendlebe.

Franceschetti syndrome: iifoto izigulane

Le ifoto ibonisa ukuba abantu syndrome Treacher Collins azikho ubomi ngaphantsi esebenzayo kunabantu esempilweni. Bafunda ukuba ukwamkela wena, umthande ubuso bakho, belangazelela ukunceda abantwana efanayo bengenamnqweno ukuphila polontsenno woyika ukuya ngaphandle ngenxa ugculelo nabanye abantwana.

Nokuba abazali esempilweni ngokupheleleyo wamkela umntwana ngesifo yemfuza.

Phezu iifoto phambi nasemva kotyando zeplastiki, le ntombazana babone umahluko omkhulu. Ngoko ke, musani ukwenza lithemba phambi kwexesha ukubeka izandla zakho. Ungasoloko ufumana indlela ukuze uphucule inkangeleko yazo.