Isifo sofuzo esingandile, i-Teacher-Collins syndrome ibonakala ngokukhula kokukhubazeka kogebhezi nobuso phakathi nokuphila kombungu, okubangela ukukhubazeka kobuso, izindlebe namehlo. Imiphumela yobuhle nokusebenza kwayo iba mibi kakhulu futhi ezinye izimo zidinga ukungenelela okuningi kokuhlinzwa. Nokho, ezimweni eziningi, ukuthatha izintambo kuvumela izinga elithile lempilo ukuba ligcinwe.

I-Treacher-Collins syndrome (eqanjwe ngo-Edward Treacher Collins, owaqala ukuyichaza ngo-1900) yisifo esingajwayelekile sokuzalwa esizibonakalisa kusukela ekuzalweni sibe nokukhubazeka okuthe xaxa noma okuncane kakhulu kwengxenye engezansi yomzimba. ubuso, amehlo nezindlebe. Ukuhlasela kukabili futhi ku-symmetrical.

Lesi sifo sibizwa nangokuthi i-Franceschetti-Klein syndrome noma i-mandibulo-facial dysostosis ngaphandle kokungajwayelekile kokuphela.

Izimbangela

Izakhi zofuzo ezintathu kuze kube manje zaziwa ukuthi ziyabandakanyeka kulesi sifo:

• isakhi sofuzo se-TCOF1, esitholakala ku-chromosome 5,
• izakhi zofuzo ze-POLR1C kanye ne-POLR1D, ezitholakala kuma-chromosome 6 no-13 ngokulandelana.

Lezi zakhi zofuzo ziqondisa ukukhiqizwa kwamaprotheni adlala indima ebalulekile ekuthuthukiseni umbungu wezakhiwo zobuso. Ukuguqulwa kwazo ngokuguqulwa kwezakhi zofuzo kuphazamisa ukuthuthukiswa kwezakhiwo zamathambo (ikakhulukazi lezo zemihlathi engezansi nengaphezulu nama-cheekbones) kanye nezicubu ezithambile (imisipha nesikhumba) zengxenye engezansi yobuso phakathi nenyanga yesibili yokukhulelwa. I-pinna, umsele wendlebe kanye nezakhiwo zendlebe ephakathi (ama-ossicles kanye / noma ama-eardrums) nazo ziyathinteka.

kwesifo

Ukukhubazeka kobuso kungasoleka kusukela ku-ultrasound ye-trimester yesibili yokukhulelwa, ikakhulukazi ezimweni zokukhubazeka okuphawulekayo kwendlebe. Kulesi simo, ukuxilonga ngaphambi kokubeletha kuzosungulwa ithimba lemikhakha eminingi elivela ku-magnetic resonance imaging (MRI) yombungu, okuvumela ukukhubazeka ukuthi kubonakale ngokunemba okwengeziwe.

Isikhathi esiningi, ukuxilongwa kwenziwa ukuhlolwa ngokomzimba okwenziwa ngesikhathi sokuzalwa noma ngokushesha ngemva kwalokho. Ngenxa yokuhlukahluka okukhulu kokungalungile, kufanele kuqinisekiswe esikhungweni esikhethekile. Ukuhlolwa kofuzo kwisampula yegazi kungase kuyalwe ukuthi kubhekwe ukuphambana kofuzo okuhilelekile.

Amanye amafomu athambile awanakwa noma azobonwa ngenhlanhla sekwephuzile, isibonelo kulandela ukuvela kwecala elisha emndenini.

Lapho ukuxilongwa sekutholakele, ingane ibhekana nochungechunge lokuhlolwa okwengeziwe:

• izithombe zobuso (i-x-ray, i-CT scan ne-MRI),
• ukuhlolwa kwezindlebe nokuhlolwa kokuzwa,
• ukuhlolwa kombono,
• sesha i-apnea yokulala (i-polysomnography) ...

Abantu abathintekayo

I-Treacher-Collins syndrome kucatshangwa ukuthi ithinta ingane eyodwa kwezingama-50, amantombazane nabafana. Kulinganiselwa ukuthi acishe abe ngu-000 amacala amasha avela unyaka ngamunye eFrance.

Izici zengozi

Ukwelulekwa ngokofuzo esikhungweni sokudlulisela kuyanconywa ukuze kuhlolwe ubungozi bokudluliswa kofuzo.

Cishe i-60% yamacala avela yedwa: ingane iyisiguli sokuqala emndenini. Ukonakala kwenzeka ngemva kwengozi yofuzo ethinte elinye noma elinye lamangqamuzana okuzala ahilelekile ekuvundiseni (“de novo” mutation). Ufuzo oluguquliwe luzobe seludluliselwa enzalweni yakhe, kodwa abukho ubungozi obuthile ngezingane zakubo. Nokho, kufanele kubhekwe ukuthi ingabe omunye wabazali bakhe empeleni akaphethwe uhlobo oluncane lwe-syndrome futhi uthwala uguquko engazi.

Kwezinye izimo, lesi sifo siwufuzo. Imvamisa, ingozi yokudlulisela iba yinye kokubili ngokukhulelwa ngakunye, kodwa kuye ngoguquko oluhilelekile, zikhona ezinye izindlela zokudlulisela. 

Izici zobuso zalabo abathintekile zivame ukuba yizimpawu, ezinesilevu esine-atrophied nehlehlayo, ama-cheekbones angekho, amehlo abheke phansi abheke emathempelini, izindlebe ezinompheme onomphetho omubi, noma ukungabikho ngokuphelele ...

Izimpawu eziyinhloko zixhunyaniswa nokukhubazeka kwe-ENT sphere:

Izinkinga zokuphefumula

Izingane eziningi zizalwa zinemigudu yokuphefumula emincane engenhla kanye nomlomo ovuleke kancane, nembotshana yomlomo evalwe kakhulu ulimi. Ngakho-ke ubunzima bokuphefumula obubalulekile ikakhulukazi ezinganeni ezisanda kuzalwa nezinsana, obubonakaliswa ngokuhona, i-apnea yokulala nokuphefumula okubuthakathaka kakhulu.

Ubunzima bokudla

Ezinganeni, ukuncelisa ibele kungase kuthikamezeke ngenxa yobunzima bokuphefumula kanye nokungajwayelekile kolwanga nolwanga oluthambile, ngezinye izikhathi luhlukana phakathi. Ukondla kulula ngemva kokwethulwa kokudla okuqinile, kodwa ukuhlafuna kungase kube nzima futhi izinkinga zamazinyo zivamile.

Ukuzizwa

Ukungaphatheki kahle kokuzwa ngenxa yokungalungi kahle kwendlebe yangaphandle noma emaphakathi kukhona ku-30 ​​kuya ku-50% wamacala. 

Ukuphazamiseka okubonakalayo

Ingxenye eyodwa kwezintathu yezingane ihlushwa i-strabismus. Abanye bangase futhi babone eduze, i-hyperopic noma i-astigmatic.

Izinkinga zokufunda nokuxhumana

I-Treacher-Collins syndrome ayibangeli ukuntula ingqondo, kodwa ukungezwa, izinkinga ezibonwayo, ubunzima bokukhuluma, imiphumela engokwengqondo yalesi sifo kanye nokuphazamiseka okubangelwa ukunakekelwa kwezokwelapha okunzima kakhulu kungabangela ukubambezeleka. ulimi nobunzima bokuxhumana.

Ukunakekela izingane

Ukwesekwa kokuphefumula kanye/noma ukuphakelwa ngamashubhu kungase kudingeke ukuze kube lula ukuphefumula nokondla usana, ngezinye izikhathi kusukela luzalwa. Lapho usizo lokuphefumula kufanele lugcinwe ngokuhamba kwesikhathi, i-tracheotomy (ukuvulwa okuncane kuqhoqhoqho, entanyeni) yenziwa ukwethula i-cannula eqinisekisa ngokuqondile ukudlula komoya emigwaqweni yomoya.

Ukwelashwa ngokuhlinzwa kokukhubazeka

Kungase kuphakanyiswe ukungenelela okuyinkimbinkimbi noma okumbalwa kokuhlinza, okuhlobene nolwanga oluthambile, imihlathi, isilevu, izindlebe, amajwabu amehlo kanye nekhala ukuze kube lula ukudla, ukuphefumula noma ukuzwa, kodwa futhi nokunciphisa umthelela wobuhle wokonakala.

Njengenkomba, imifantu yolwanga oluthambile ivalwa ngaphambi kweminyaka eyizinyanga eziyisi-6, izinqubo zokuqala zezimonyo ezinkopheni nasezihlathini kusukela eminyakeni emi-2, ukunwetshwa kwe-mandible (ukuphazamiseka kwe-mandibular) kuya eminyakeni eyi-6 noma eyi-7, ukunamathiselwa kabusha kwe-mandible. i-ear pinna cishe eminyakeni eyi-8 ubudala, ukukhuliswa kwemisele yokuzwa kanye / noma ukuhlinzwa kwama-ossicles aphakathi kweminyaka eyi-10 kuya kweyi-12…

Usizo lokuzwa

Izinsiza-kuzwa ngezinye izikhathi zingenzeka kusukela ezinyangeni ezi-3 noma ezi-4 lapho ubuthulu buthinta zombili izindlebe. Izinhlobo ezahlukene zezitho zokufakelwa ziyatholakala kuye ngohlobo lomonakalo, ngokusebenza kahle okuhle.

Ukulandelela kwezokwelapha kanye nezimo eziphuthumayo

Ukuze kukhawulwe futhi kuvinjwe ukukhubazeka, ukuqapha okuvamile kuyimisebenzi eminingi futhi kubize ochwepheshe abahlukahlukene:

• I-ENT (ingozi enkulu yokutheleleka)
• I-Ophthalmologist (ukulungiswa kokuphazamiseka okubukwayo) kanye ne-orthoptist (ukuvuselelwa kwamehlo)
• Udokotela wamazinyo kanye nodokotela wamazinyo
• Umelaphi wenkulumo...

Ukwesekwa ngokwengqondo nemfundo kuvame ukudingeka.