I-Treacher Collins Syndrome: Izimpawu, Izimbangela, Ukwelashwa

Isibuyekezo sokugcina: Februwari 23, 2024
Author: y7ikh

I-Treacher Collins syndrome isifo esingavamile sofuzo esithinta ukukhula kwamathambo obuso nezicubu, okuholela ezicini zobuso ezihlukile njengamehlo abheke phansi, umhlathi omncane, nezindlebe ezingalungile. Izimpawu ezivamile zihlanganisa izinkinga zokubona, ukuzwa, nokuphefumula, kanye nobunzima bokudla nokukhuluma. I-syndrome ibangelwa ukuguqulwa kofuzo lwe-TCOF1, olukhiqiza iphrotheni ebalulekile ekuthuthukisweni kwe-craniofacial.

Ukwelashwa kwe-Treacher Collins syndrome ngokuvamile kuhilela indlela yokwenza izinto eziningi, engase ihlanganise ukuhlinzwa okwakha kabusha ukuze kulungiswe ukukhubazeka kobuso, izindlela zokwelapha zokuthuthukisa inkulumo nokudla, kanye nokulandelela kwezokwelapha okuvamile ukuze kuqashwe izinkinga ezingase zibe khona zokuzwa nokuphefumula. Ukusekelwa ngokwengqondo nangokomzwelo nakho kubalulekile ekusizeni iziguli nemikhaya yazo ukuba zibhekane nezinselele ezingokomzimba nezingokomzwelo ezihlobene nesifo.

Yiziphi izimbangela ze-Treacher Collins, isifo sofuzo esingavamile esithinta ubuso?

I-Treacher Collins Syndrome yisimo sofuzo esiyivelakancane esithinta ukukhula kobuso, okubangela ukuphazamiseka kwe-craniofacial. Izimbangela zalesi sifo zihlobene nokuguqulwa kwezakhi zofuzo ku-TCOF1 gene, enesibopho sokukhiqiza iphrotheni ebalulekile ekuthuthukiseni kahle amathambo obuso.

Lokhu kuguqulwa kofuzo kuthinta ukwakheka kwamathambo obuso ngesikhathi sokukhulelwa, okuholela ezicini ezihlukile njengomhlathi omncane, amehlo abheke phansi, izindlebe ezingalungile, nolwanga oluphakeme. Ukwengeza, i-Treacher Collins syndrome ingathinta nezinye izakhiwo zobuso, njengemisipha yobuso kanye nezinzwa ze-cranial.

Kubalulekile ukugcizelela ukuthi i-Treacher Collins Syndrome ayibangelwa izimo zemvelo noma imikhuba yokuphila, kodwa ibangelwa ufuzo kuphela. Abantu abathintwe yilesi simo bazuza ifa lokuguqulwa kofuzo kubazali babo, futhi kungenzeka ngezikhathi ezithile ezimweni ezingavamile.

Ukuxilongwa kusenesikhathi kwe-Treacher Collins Syndrome kubalulekile ekuhleleni ukwelashwa okufanele kanye nokulandelela okukhethekile kwezokwelapha. Ukwelashwa kwalesi sifo ngokuvamile kuhilela ukuhlinzwa ukuze kuthuthukiswe ukuphefumula, ukuzwa, nobuhle besiguli.

Zingaki izehlakalo ze-Treacher Collins ezitholakala minyaka yonke e-Brazil?

I-Treacher Collins syndrome yisimo sofuzo esingandile esithinta ukukhula kwamathambo obuso nezicubu, okuholela ezicini zobuso ezihlukile. Izimpawu ezijwayelekile zihlanganisa ukukhubazeka kwe-craniofacial njengomhlathi omncane, ogobile, amehlo abheke phansi, nezindlebe ezingalungile. Lesi sifo sibangelwa ukuguquka kwezakhi zofuzo ezithile futhi singatholakala ngokuhlolwa kofuzo.

Ngokuphathelene nesifo esenzeka eBrazil, alikho inani eliqondile lezifo ezitholakala minyaka yonke. Kodwa-ke, kulinganiselwa ukuthi i-Treacher Collins Syndrome ithinta cishe oyedwa kubantu abangu-1 emhlabeni jikelele. E-Brazil, inani lamacala lingahluka, kodwa kusabhekwa njengesimo esingandile.

Ukwelashwa kwe-Treacher Collins Syndrome ngokuvamile kuhilela indlela yokwenza izinto eziningi, okuhlanganisa ukuhlinza ukulungisa ukuze kuthuthukiswe imisebenzi yokuphefumula, yokuzwa, neyobuhle. Ukwengeza, ukwelapha ngenkulumo nokusekelwa ngokwengqondo nakho kubalulekile ekusekeleni ukukhula kweziguli kanye nezinga lempilo.

Nakuba lingekho inani eliqondile lezimo ezitholakala minyaka yonke e-Brazil, isifo siyelapheka, futhi iziguli zingaphila izimpilo ezigcwele ngokusekelwa okufanele. Kubalulekile ukuthi kuqwashiswe ngalesi simo nokuthi iziguli zithole ukwesekwa okudingekayo ukuze zibhekane nezinselelo esinazo.

I-Treacher Collins syndrome yatholwa ngamuphi unyaka?

I-Treacher Collins syndrome yatholakala ngo-1949 ngudokotela waseBrithani u-Edward Treacher Collins. Lesi simo esingavamile sithinta ukukhula kwamathambo nezicubu zobuso, okuholela ezicini zobuso ezihlukile. Ezinye zezimpawu ezivame kakhulu zifaka umhlathi omncane, amehlo agobile, izindlebe ezikhubazekile, nezinkinga zokuzwa.

Izimbangela ze -Treacher Collins syndrome zihlobene nokuguquka kwezakhi zofuzo ku-TCOF1 gene, okubangela ukukhiqiza iphrotheni ebalulekile ekuthuthukisweni kwamathambo obuso. Lezi zinguquko ziphazamisa ukwakheka kwezicubu zobuso, okuholela ezimpawini eziphawulekayo zalesi sifo.

Ukwelashwa kwe-Treacher Collins syndrome kuhilela indlela ehlanganisa imikhakha eminingi, enezindlela zokuhlinzwa zokulungisa izinkinga zobuso, ukwelashwa kokukhuluma ukuze kuthuthukiswe ukuxhumana, kanye nokulandelela njalo kwezokwelapha ukuze kuqashwe ukuzwa nokukhula kwengane.

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Nakuba lingekho ikhambi, ngokwelashwa okufanele nokusekelwa umndeni nabasebenzi bezokwelapha, abantu abane-Treacher Collins syndrome bangaphila ukuphila okugcwele nokwanelisayo. Kubalulekile ukufuna iseluleko sezokwelapha esikhethekile ukuze uxilongwe kusenesikhathi kanye nokuphathwa okufanele kwalesi simo sofuzo.

Siyini isimo sika-August Pullman efilimini engavamile?

Isimo sika-August Pullman kwifilimu ethi "Wonder" yi-Treacher Collins Syndrome, isifo esingavamile sofuzo esithinta ukukhula kwamathambo nezicubu zobuso. Lesi sifo sibonakala ngezimpawu eziningana , njengomhlathi omncane, isilevu esibuyela emuva, izindlebe ezingasebenzi kahle, namehlo abheke phansi. Ngaphezu kwalokho, kungase kube nezinkinga zokuzwa nokuphefumula ngenxa yokungasebenzi kahle kwemigudu yomoya.

Izimbangela ze-Treacher Collins syndrome zihlobene nokuguquka kwezakhi zofuzo okuthinta ukwakheka kwezicubu zobuso ngesikhathi sokukhulelwa . Lokhu kuguquka kungenziwa njengefa noma kwenzeke ngokuzumayo. Ukuxilongwa kuvame ukwenziwa ngokushesha ngemva kokuzalwa ngokusekelwe ezimpawini zomzimba zomntwana.

Ukwelashwa kwe-Treacher Collins Syndrome kuhilela indlela ehlukahlukene, enethimba lezokwelapha eligxile ekuhlinzeni ipulasitiki, i-otolaryngology, ukwelashwa kokukhuluma , kanye nokusebenza kwengqondo. Ukuhlinzwa okuvuselelayo kuvame ukudingeka ukuze kulungiswe ukukhubazeka kobuso nokuthuthukisa ikhwalithi yokuphila kwesiguli. Ngaphezu kwalokho, ukwelashwa kokukhuluma nokuzwa kunganconywa ukuze kuxazululwe noma yiziphi izinkinga kulezi zindawo.

Ukuxilongwa kusenesikhathi kanye nokwelashwa okufanele kubalulekile ukuze kuthuthukiswe izinga lempilo yeziguli ezithintwe yilesi sifo.

I-Treacher Collins Syndrome: Izimpawu, Izimbangela, Ukwelashwa

I-Treacher Collins syndrome yisifo sofuzo esithinta ukukhula kwesakhiwo samathambo nezinye izicubu endaweni yobuso. Ngokuqondile, nakuba labo abathintekile ngokuvamile benezinga elijwayelekile noma elilindelekile lobuhlakani esigabeni sabo sokukhula, baveza ezinye izinto ezingavamile ezifana nokukhubazeka kwemisele yokuzwa kanye nama-ossicles, imifantu ye-palpebral, ama-colobomas e-ocular, noma i-cleft palate, phakathi kwezinye.

I-Treacher Collins syndrome yisimo sezokwelapha esingandile, ngakho-ke isigameko saso silinganiselwa cishe esimweni esisodwa cishe kwabangama-40.000 abazalwayo.

Ngaphezu kwalokho, izifundo zokuhlola nezomtholampilo zibonise ukuthi izimo eziningi ze-Treacher Collin syndrome zibangelwa uguquko olukhona ku-chromosome 5, ikakhulukazi endaweni 5q31.3.

Ngokuqondene nokuxilongwa, ngokuvamile kwenziwa ngokusekelwe kuzimpawu nezimpawu ezikhona kumuntu othintekile, nokho, izifundo zofuzo ziyadingeka ukuze kucaciswe ukungahambi kahle kwe-chromosomal futhi, ngaphezu kwalokho, ukukhipha amanye ama-pathologies.

Okwamanje, alikho ikhambi le-Treacher Collins syndrome; odokotela abangochwepheshe ngokuvamile bagxila ekulawuleni izimpawu ezithile kumuntu ngamunye. Ukungenelela kwezokwelapha kungabandakanya ochwepheshe abahlukahlukene, kanye nezinqubo zokungenelela ezihlukene, okuhlanganisa i-pharmacological, ukuhlinzwa, njll.

Izici ze-Treacher Collins syndrome

I-Treacher Collins syndrome iyisifo esithinta ukukhula kwekhanda. Ngokukhethekile, i-National Treacher Collins Syndrome Association ichaza lesi simo sezokwelapha ngokuthi: “Isifo noma ukukhubazeka kokuzalwa kwekhanda okungavamile, okukhubazayo, nokungelapheki.”

Lesi simo sezempilo sabikwa ngo-1846 nguThompson noToynbee ngo-1987. Nokho, siqanjwe ngodokotela wamehlo waseBrithani u-Edward Treacher Collins, owasichaza ngo-1900.

Embikweni wakhe womtholampilo, u-Treacher Collins uchaze izingane ezimbili ezazinezinkophe ezinde ngendlela engavamile, ezinamehlo aphansi nezihlathi ezingekho noma ezingakakhuli kahle.

Ngakolunye uhlangothi, ukubuyekezwa kokuqala okubanzi nokunemininingwane kwalesi sifo kwenziwa ngu-A. Franceschetti no-D. Klein ngo-1949, besebenzisa igama elithi mandibulofacial dysotosis.

Le pathology ithinta ukuthuthukiswa nokwakheka kwesakhiwo se-craniofacial, ukuze abantu abathintekayo baveze izinkinga ezihlukahlukene, njengezici zobuso obungavamile, ukungezwa, ukushintsha kwamehlo, izinkinga zokugaya noma izinguquko zolimi.

Izibalo

I-Treacher Collins syndrome yisifo esingavamile kubantu abaningi. Ucwaningo lwezibalo lubonisa ukuthi kukhona ukuvama okulinganiselwe kwecala elingu-1 kubantu abangu-10.000 kuya ku-50.000 emhlabeni jikelele.

Ngaphezu kwalokho, i-congenital pathology, ngakho-ke, izici zayo zomtholampilo zizoba khona kusukela ngesikhathi sokuzalwa.

Mayelana nokusatshalaliswa kobulili, ayikho idatha yakamuva etholakele ebonisa imvamisa ephezulu kunoma yibuphi ubulili. Ngaphezu kwalokho, akukho ukusatshalaliswa okuhlobene nezindawo ezithile zendawo noma amaqembu ezizwe.

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Ngakolunye uhlangothi, lesi sifo sinemvelo ehlotshaniswa nokuguqulwa kwe-de novo kanye namaphethini efa, ngakho-ke uma omunye wabazali ehlushwa yi-Treacher Collins syndrome, unethuba elingu-50% lokudlulisela lesi simo sezokwelapha ezinganeni zabo.

Ezimweni zabazali abanengane ene-Treacher Collins syndrome, amathuba okuba nengane enalesi sifo futhi aphansi kakhulu, lapho izimbangela ze-etiological zingahlotshaniswa nezici zofuzo.

Izimpawu zesici nezimpawu

Kunezinguquko ezihlukene ezingase zivele ezinganeni eziphethwe yilesi sifo, noma kunjalo, azikho kuzo zonke izimo.

Isici sofuzo esingavamile se-Treacher Collins syndrome sizodala izimpawu nezimpawu ezihlukahlukene, futhi zonke zizoba nomthelela omkhulu ekuthuthukisweni kwesifunda se-craniofacial.

Izici ze-Craniofacial

  • Ubuso: Izinguquko ezithinta ukucushwa kobuso ngokuvamile zivela ngokulinganayo nangezinhlangothi zombili, okungukuthi, nhlangothi zombili zobuso. Ezinye zezinto ezingavamile ezivame kakhulu zihlanganisa ukungabibikho noma ukukhula kancane kwe-cheekbones, ukuthuthukiswa okungaphelele kwesakhiwo samathambo omhlathi ongezansi, nokuba khona komhlathi omncane ngokungavamile kanye/noma noma isilevu.
  • I-Boca: Ulwanga oluvulekile, ukukhubazeka kwe-mandibular, ukuhlehla kolimi, ukukhula okungaphelele kanye nokungahleleki kahle kwamazinyo yizinguquko ezijwayelekile zalesi sifo.
  • Amehlo: Ukonakala okungavamile noma ukukhula kwezicubu ezizungeze amehlo, ukushona kwamajwabu amehlo, ukungabi bikho kwezinkophe ezincane kakhulu noma imigudu yokukhala. Ukwengeza, ukuthuthukiswa kokuqhekeka noma izimpukane kuzicubu ze-iris noma ukuba khona kwamehlo amancane ngokungavamile nakho kungenzeka.
  • Izindiza: zikhona izinto eziningi ezingavamile ezithinta imigudu yokuphefumula, okuvame kakhulu ukuthuthukiswa kwengxenye yepharynx, ukuncipha noma ukuvaleka kwamakhala.
  • Izindlebe nezindlebe: Ukwakheka okungalungile kwesakhiwo sokuzwa sangaphakathi, esiphakathi, nangaphandle. Ngokukhethekile, izindlebe zingase zingathuthuki noma zingathuthuki kancane, zihambisane nokuncishiswa okuphawulekayo komsele wokuzwa wangaphandle.
  • Ukungajwayelekile emaphethelweni: Emaphesentini amancane ezimo, abantu abane-Treacher Collins syndrome bangase babe nokungajwayelekile kwesandla, ikakhulukazi, izithupha kungenzeka zishoda noma zingathuthukisiwe ngokuphelele.

Kafushane, izinguquko esingalindela ukuvela ezinganeni eziphethwe yi-Treacher Collins syndrome zizothinta umlomo, amehlo, izindlebe nokuphefumula.

Izici ze-Neurological

Inkambo yomtholampilo yalesi simo sezokwelapha izoholela kuphethini ethile yemizwa, ebonakala ngokuthi:

  • Ukuba khona okuguquguqukayo kwe-microcephaly.
  • Izinga lobuhlakani elijwayelekile
  • Ukubambezeleka ekutholeni amakhono e-psychomotor.
  • Ukubandakanyeka okuguquguqukayo kwezindawo zokuqonda.
  • Izinkinga zokufunda

Kwezinye izimo, ukubambezeleka ekuthuthukisweni kwezindawo ezihlukahlukene noma ekutholweni kwamakhono kungenxa yokuba khona kwezinkinga zezokwelapha kanye/noma ukungahambi kahle ngokomzimba noma ukukhubazeka.

Izinkinga zezokwelapha zesibili

Izinguquko ebusweni, kokuzwayo, komlomo, noma kwesakhiwo samehlo zizodala izinkinga eziningi zempilo, eziningi zazo ezingaba zimbi kakhulu kumuntu othintekile:

  • Ukuhluleka kokuphefumula : ukuncishiswa kokusebenza kwesistimu yokuphefumula kuyisimo sezempilo esisongela ukuphila komuntu.
  • I-apnea yezingane : le nkinga yezokwelapha ihilela ukuba khona kweziqephu ezimfushane zokuphazamiseka kwenqubo yokuphefumula, ikakhulukazi phakathi nezigaba zokulala.
  • Izinkinga zokudla : ukungahambi kahle kwe-pharyngeal kanye nokukhubazeka komlomo kuphazamisa kakhulu ikhono lomuntu othintekayo lokudla; ezimweni eziningi, ukusetshenziswa kwezinyathelo zesinxephezelo kuyodingeka.
  • Ukulahlekelwa ukubona nokuzwa: Njengezinkinga zezokwelapha zangaphambilini, ukuthuthukiswa okungavamile kwezakhiwo zamehlo kanye/noma zokuzwa kuzoholela ekulimaleni okuguquguqukayo kwawo womabili amakhono.
  • Ukubambezeleka ekutholeni nasekukhiqizeni ulimi : ikakhulukazi ngenxa yokonakala okuthinta izisetshenziswa zomsindo.

Kulezi zimpawu, kokubili ukwethulwa/ukungabikho kanye nokuqina kungahluka kakhulu phakathi kwabantu abathintekile, ngisho naphakathi kwamalungu omndeni owodwa.

Kwezinye izimo, umuntu othintekile angase abe nenkambo yomtholampilo ecashile, ngakho-ke i-Treacher Collins syndrome ingase ihlale ingatholakali. Kwezinye izimo, ukungahambi kahle okubi kakhulu kanye nezinkinga zezokwelapha kungase kuvele okungabeka engozini ukuphila komuntu.

Izimbangela

Njengoba sibonisile ngaphambili, i-Treacher Collins syndrome inesimo sofuzo sohlobo lokuzalwa, ngakho-ke, abantu abathintekayo bazoletha lesi simo sezokwelapha kusukela ekuzalweni.

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Ngokucacile, izimo eziningi zihlotshaniswa nokuba khona kokungavamile ku-chromosome 5, endaweni engu-5q31.

Ngaphezu kwalokho, uphenyo oluhlukile kuwo wonke umlando walesi sifo lubonise ukuthi singabangelwa ukuguqulwa okuthile kufuzo lwe-TCOF1, POLR1C noma i-POLR1D.

Ngakho-ke, isakhi sofuzo se-TCOF1 yisona sizathu esivame kakhulu salesi sifo, sibala cishe ama-81-93% azo zonke izimo. Ngakolunye uhlangothi, izakhi zofuzo ze-POLR1C kanye ne-POLRD1 ziholela cishe ku-2% wamacala asele.

Lolu chungechunge lwezakhi zofuzo lubonakala ludlala indima ebalulekile ekuthuthukisweni kwamathambo, imisipha, nesikhumba ezindaweni zobuso.

Nakuba izimo eziningi ze-Treacher Collins syndrome zingavamile, lesi simo sinephethini yofuzo engu-50% ukusuka kubazali kuya ezinganeni.

Ukuxilongwa

Ukuxilongwa kwe-Treacher Collis syndrome kusekelwe ekutholakaleni komtholampilo kanye ne-radiological futhi, ngaphezu kwalokho, kusetshenziswa ukuhlolwa kofuzo okuningana okuhambisanayo.

Endabeni yokuxilongwa komtholampilo, ukuhlolwa okuningiliziwe ngokomzimba kanye nezinzwa kwenziwa ukuze kutholakale imbangela. Le nqubo ngokuvamile isekelwe kunqubo yokuxilonga yesifo.

Okunye ukuhlola okuvame ukusetshenziswa kulesi sigaba sokuhlola ama-X ray, angasinikeza ulwazi mayelana nokuba khona/ukungabikho kokukhubazeka kwe-craniofacial.

Nakuba izici ezithile zobuso zibonakala ngokuqondile, ama-X-ray anikeza ulwazi olunembile nolunembile mayelana nokukhula kwemihlathi, ukukhula kogebhezi lwekhanda, noma ukuthuthukiswa kokukhubazeka okwengeziwe.

Ngaphezu kwalokho, ezimeni lapho izimpawu zomzimba zisacashe kakhulu noma lapho kudingekile khona ukuqinisekisa ukuxilongwa, ukuhlolwa kofuzo okuningana kungasetshenziswa ukuze kuqinisekiswe ukuba khona kokuguqulwa kofuzo ku-TCOF1, POLR1C kanye ne-POLR1D.

Ukwengeza, uma kunomlando womndeni we-Treacher Collins syndrome, ukuxilongwa kokubeletha kungenzeka. Nge-amniocentesis, singahlola izakhi zofuzo zombungu.

Ukwelashwa

Njengamanje, akukho ukwelashwa okwelaphayo kwe-Treacher Collins syndrome, ngakho ochwepheshe bagxila ekwelapheni izimpawu nezimpawu ezivame kakhulu.

Ngakho-ke, ngemuva kokuqinisekiswa kokuqala kwe-pathology, kubalulekile ukuthi kuhlolwe izinkinga ezingaba khona zezokwelapha:

  • Izinguquko zendawo
  • Izinguquko ezingathi sína ekwakhekeni kobuso.
  • Imifantu emlonyeni
  • Iziyaluyalu zokugwinya.
  • Izinguquko ezengeziwe.
  • Izinkinga zamehlo nezibonwayo
  • Iziyaluyalu zamazinyo

Ukuhlonza konke lokhu okudidayo kubalulekile ekuklameni ukwelashwa komuntu ngamunye okuhambisana nezidingo zomuntu othintekile.

Ngakho-ke, ukuphatha lokhu kwelashwa komuntu ngamunye, ukuba khona kochwepheshe abavela ezindaweni ezahlukene ngokuvamile kuyadingeka, njengodokotela wezingane, udokotela ohlinzayo wepulasitiki, udokotela wamazinyo, i-audiologist, isazi sokukhuluma, isazi sokusebenza kwengqondo, njll.

Ngokucacile, zonke izinkinga zezokwelapha zihlukaniswe izigaba eziningana ukuze kubhekwane nokungenelela kwazo kokwelashwa:

  • Kusukela eminyakeni emi-0 kuye kweyisi-2 : ukwelashwa kwezinguquko endleleni yokuphefumula kanye nokuxazulula izinkinga zokudla
  • Kusukela eminyakeni emi-3 kuye kweyisi-12 : ukwelashwa kwezinkinga zolimi nokuhlanganiswa ohlelweni lwezemfundo
  • Kusukela ku-13 kuya ku-18 ubudala : ukusetshenziswa kokuhlinzwa ukulungisa ukonakala kwe-craniofacial.

Kuzo zonke lezi zigaba, ukusetshenziswa kwezidakamizwa kanye nokwakhiwa kabusha kwe-qiririjic yizindlela ezivame kakhulu zokwelapha.

Izinkomba

  1. I-ANSTC (2016). Yini i-Treacher Collins? Itholwe kuNational Treacher Collins Syndrome Association.
  2. I-CCA (2010). Umhlahlandlela ukuqonda i-traitor-collins syndrome. Kutholwe ku-Children's Craniofacial Association.
  3. Cobb, A., Green, B., Gill, D., Ayliffe, P., Lloyd, T., Bulstrode, N., & Dunaway, D. (2014). Ukwelashwa kokuhlinzwa kwe-Treacher Collins syndrome. Ijenali YaseBrithani Yokuhlinzwa Oral and Maxillofacial , I-581-589.
  4. I-Home Genetics Reference. (2016). I-Treacher Collins syndrome. Kubuyiswe ku-Genetics Home Reference.
  5. Huston Katsanis, S., & Wang Jabs, E. (2012). I-Traacher Collins Syndrome. GeneReviews .
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