Yintoni isifo sikaTreacher Collins kwaye simchaphazela njani umntwana?

izifo ezinqabileyo
Isifo sengqondo UTreacher Collins yinto enqabileyo azalwa nayo engalunganga. Sisifo esikhubazayo nesinganyangekiyo esichaphazela, eSpain, 2 kwabali-100.000 XNUMX abazalwayo. Njengakwezinye izifo, ngomhla wayo, kwaye namhlanje lusuku lwamazwe aphesheya, imalunga nokunikezela ukubonakala kunye nolwazi.

Igama livela kugqirha waseNgilani kunye nogqirha wamehlo uEdward Treacher Collins, owathi ichaze iimpawu zayo ngaphezulu kwenkulungwane eyadlulayo, ngo-1900. Emva koko, ngo-1949, uA. Franceschetti no-D. Klein bachaza iimpawu ezifanayo xa bebona esi sifo, basinika igama le-mandibulofacial dysostosis.

Yintoni i-Teacher Collins syndrome? Phantse yonke into ekufuneka uyazi

izifo ezinqabileyo

Unobangela wesifo sikaTaecher Collins ngu chromosome 5 uguquko kwimfuzo (Treacle), echaphazela ukukhula kobuso. Yeyona genge iphambili echaphazela abasetyhini kunye nabesilisa. Utshintsho lwe-novo gene lunokwenzeka ngexesha lokukhulelwa, okokuqala ngqa, okanye kwilifa.

Amakhwenkwe kunye namantombazana ane-syndrome azalwe ngaphandle kwe-cheekbones, ene-microtia, oko kukuthi, ngaphandle kwendlebe enye okanye zombini. Umhlathi wabo awukhuli, banomqala omxinwa kakhulu kwaye ngamanye amaxesha bazalwa benenkalakahla evulekileyo. Ngaba iingxaki zamehlo ezahlukeneyo, njengokuma kunye nezilonda kwi-cornea, ukuva, ukungeva, ukugaya kunye nokuphefumla.

Iintsana ezizalwe ngale ngxaki bafuna utyando oluninzi kwiintsana. Iintsapho kufuneka zijongane neenkcitho ezinkulu ukuze abantwana babo babe nobomi obungcono. Kwakhona, ayizizo zonke unyango ezigutyungelweyo kukhuseleko lweNtlalo. E-Spain, uMbutho we-Treacher Collins Syndrome Association wenziwa ngo-2012. Injongo yawo kukubonelela lonke ulwazi oluyimfuneko kubo bonke abazali babantwana abanesi sifo, ukunika imbonakalo koku ukugula okungaqhelekanga nokukhuthaza uphando lwezenzululwazi ngayo.

Iimpawu kunye neempawu zikaTreacher Collins

izifo ezinqabileyo

Njengakwizifo ezininzi ezinqabileyo, iimpawu zesi sifo kunokuba nobulali, ukuba umzali angalufumana utshintsho, kodwa angazazi iimpawu zalo kwaye alugqithise phantse angalazi. Okanye iimpawu ezinzulu ngakumbi, ezineempawu ezibonakalayo ngakumbi, ezibizwa ngokuba kukungena okuphezulu.

Isifo sikaTreacher Collins kubangela utshintsho olwenzeka emzimbeni oluhlala lulinganayo. Phakathi kolu tshintsho sifumana oku kulandelayo:
Ukuthambeka ezantsi kweekona zangaphandle zamehlo

  • Ukutshatyalaliswa kweenkophe ezingaphezulu kunye nokutshixwa kweenkophe ezisezantsi, ngemigca embalwa okanye kungekho imivimbo mva
  • Amathambo amancinci amancinci
  • Umhlathi omncinci osezantsi, obangela ukugqithisa. Amazinyo ambalwa.
    inkalakahla evulekileyo okanye eqhekekileyo
  • Iindlebe ezincinci kunye ne-morphology engaqhelekanga. Ukuvuleka okuncinci okanye okungekhoyo kuvavanyo.

Xa ukubonakala kobuso bosana olusandul 'ukuzalwa kuphawula, oogqirha baya kucinga ngesifo sikaTreacher Collins kunye nee-X-ray zamathambo obuso bomntwana aya kuvumela ukuphuma okanye ukuqinisekisa isifo sikaTreacher Collins. Iya kuba yi iimvavanyo zemfuzo eziya kuthi zivumele ukuxilongwa.

Unyango

unyango

Iintsana ezine-Treacher Collins syndrome zinokuba nazo ingxaki yokuphefumla kuba iindlela zabo zomoya zimxinwa. Ezinye iindlela zokuma ziya kukunceda uphefumle lula. Kukho abantwana abaneengxaki zokondla, kwaye bafuna ityhubhu yokondla ephuma ezimpumlweni zabo iye esiswini.

La ukuva kufuneka kuvavanywe ngexesha lokuzalwa. Izinto zokuncedisa ukuva zisebenza kakuhle kuninzi lwabantwana abane-Treacher Collins syndrome. Inkxaso yonyango lwentetho kunye noviwo lwe-ophthalmological ziyimfuneko kuba zinokuba nengxaki ngokuhamba kwamehlo, kunye nokuvezwa kwee-corneas kufuneka kuvavanywe.

Nangona kunjalo, umntwana okanye umntwana omncinci onesifo sikaTreacher Collins unesifo sokuphefumla okanye sokondla. Uninzi lotyando luchaphazela ukwakhiwa kwakhona kobuso. Oku kwenziwa ngaphezulu kweminyaka xa umntwana emdala. Ukuhlinzwa ebusweni nasemhlathini kuphucula ukubonakala komzimba, kwaye kunefuthe elihle kukuzithemba komntwana kunye nokunxibelelana kwezentlalo.


Umxholo wenqaku uyabambelela kwimigaqo yethu imigaqo yokuziphatha yokuhlela. Ukuxela impazamo cofa apha.

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