Chirwere chisingawanzo geneti, Mudzidzisi-Collins syndrome chinoratidzwa nekukura kwekuremara kwekuzvarwa kwedehenya nechiso panguva yehupenyu hwe embryo, zvichikonzera kuremara kwechiso, nzeve uye maziso. Iyo yekunakisa uye inoshanda mhedzisiro yakawedzera kana kushoma uye zvimwe zviitiko zvinoda kupindira kwakawanda kwekuvhiya. Nekudaro, muzviitiko zvakawanda, kutora mutoro kunobvumira humwe hunhu hwehupenyu kuchengetedzwa.

Treacher-Collins syndrome (yakapiwa zita raEdward Treacher Collins, uyo akatanga kuitsanangura muna 1900) chirwere chisingawanzoitiki chekuzvarwa nacho chinozviratidza kubva pakuzvarwa chiine hurema hwakanyanya kana kushoma hwechikamu chezasi chemuviri. chiso, maziso nenzeve. Kurwiswa kwacho kune mativi maviri uye akaenzana.

Chirwere ichi chinonziwo Franceschetti-Klein syndrome kana mandibulo-facial dysostosis pasina magumo abnormalities.

Zvinokonzera

Majini matatu kusvika parizvino anozivikanwa kuve akabatanidzwa mune iyi syndrome:

• iyo TCOF1 gene, iri pachromosome 5,
• iyo POLR1C uye POLR1D majini, ari pamachromosomes 6 uye 13 zvakateerana.

Aya majini anotungamira kugadzirwa kwemapuroteni anoita basa guru mukukura kwe embryo yezvimiro zvechiso. Kuchinja kwavo kuburikidza nekuchinja kunokanganisa kukura kwemapfupa emapfupa (kunyanya aya ezasi uye epamusoro shaya uye cheekbones) uye zvinyoro zvinyoro (tsandanyama neganda) zvechikamu chezasi chechiso mumwedzi wechipiri wekuzvitakura. Iyo pinna, mugero wenzeve pamwe chete nezvimiro zvepakati nzeve (ossicles uye / kana eardrums) zvinokanganiswawo.

chirwere

Kukanganisa kwechiso kunogona kufungidzirwa kubva kune ultrasound yechipiri trimester yekuzvitakura, kunyanya muzviitiko zvekukosha kwenzeve. Muchiitiko ichi, kuongororwa kwepamuviri kuchasimbiswa neboka remarudzi akawanda kubva kune magnetic resonance imaging (MRI) ye fetus, zvichiita kuti kukanganisa kuonekwe nekunyatsojeka.

Kazhinji yenguva, kuongororwa kunoitwa nekuongororwa kwemuviri kunoitwa pakuzvarwa kana nguva pfupi yapfuura. Nekuda kwekusiyana kukuru kwekukanganisa, inofanirwa kusimbiswa munzvimbo yakasarudzika. Ongororo yemajini pasampu yeropa inogona kurairwa kuti itarise kusaenzana kwemajini kunobatanidzwa.

Mamwe mafomu akapfava haaonekwe kana kuti anozoonekwa anonoka, semuenzaniso zvichitevera kutaridzika kwenyaya nyowani mumhuri.

Kana chirwere chacho changoitwa, mwana anoiswa kune dzimwe ongororo dzekuwedzera:

• kufungidzira kwechiso (x-ray, CT scan uye MRI),
• bvunzo dzenzeve uye bvunzo dzekunzwa,
• kuongororwa kwechiratidzo,
• tsvaga kufema kwekurara (polysomnography) ...

Vanhu vane hanya

Treacher-Collins syndrome inofungidzirwa kuti inobata mumwe muvana vachangoberekwa makumi mashanu, vasikana nevakomana. Zvinofungidzirwa kuti zviuru zvemhosva zvitsva zvinoonekwa gore rega rega muFrance.

Zvinhu zvinotyisa

Genetic counselling in a referral centre inokurudzirwa kuongorora njodzi dzekutapurirana kwemajini.

Inenge 60% yematambudziko anoonekwa ari oga: mwana ndiye murwere wekutanga mumhuri. Kusakwana kunoitika zvichitevera tsaona yemajini yakabata rimwe kana rimwe masero ekubereka ane chekuita nekusangana (“de novo” mutation). The mutated gene inobva yapfuudzwa kuvazukuru vake, asi hapana imwe njodzi kune vanin'ina vake. Nekudaro, zvinofanirwa kutariswa kana mumwe wevabereki vake asiri kutambura nechimiro chidiki chechirwere uye kutakura shanduko asingazvizivi.

Mune zvimwe zviitiko, chirwere chacho chinogarwa nhaka. Kazhinji kazhinji, njodzi yekutapurirana imwe paviri nepamuviri wega wega, asi zvichienderana nekuchinja kunobatanidzwa, kune dzimwe nzira dzekutapurirana. 

Mamiriro ezviso zveavo vakabatwa anowanzo hunhu, ane atrophied uye achidzoreredza chirebvu, asiripo cheekbones, maziso akarerekera pasi akananga kutemberi, nzeve dzine diki uye dzakaipa hemmed pavilion, kana kutovepo zvachose ...

Zviratidzo zvikuru zvinobatanidzwa nekukanganiswa kweiyo ENT sphere:

Matambudziko ekufema

Vana vazhinji vanozvarwa vaine nzira dzemhepo dzakatetepa dzepamusoro uye muromo wakashama zvishoma, nekaburi kadiki kemukanwa kakanyanya kuvharirwa nerurimi. Saka kufema kwakanyanya kuoma kunyanya muvacheche nevacheche, izvo zvinoratidzwa nekuridza ngonono, kutadza kufema kwehope uye kufema kwakanyanya.

Kunetseka kudya

Muvacheche, kuyamwisa kunogona kukanganiswa nekunetseka kwekufema uye nekusagadzikana kwemukanwa uye mukanwa munyoro, dzimwe nguva kupatsanurwa. Kudyisa kuri nyore mushure mekutanga kwekudya kwakasimba, asi kutsenga kunogona kuve kwakaoma uye matambudziko emazino akajairika.

Matsi

Kunzwa kusagadzikana nekuda kwekukanganisa kwekunze kana pakati nzeve kunowanikwa mu30 kusvika 50% yezviitiko. 

Kuvhiringidzika kunoonekwa

Chikamu chimwe muzvitatu chevana vanotambura ne strabismus. Vamwe vanogona zvakare kuona pedyo, hyperopic kana astigmatic.

Zvinetso zvekudzidza nekutaurirana

Treacher-Collins syndrome haikonzeri kuperevedza kwenjere, asi kusanzwa, matambudziko ekuona, kuomerwa kwekutaura, mhedzisiro yepfungwa yechirwere pamwe nekukanganisika kunokonzerwa neanowanzo kurema kurapwa kunogona kukonzera kunonoka. mutauro uye kunetseka kutaurirana.

Kuchengetwa kwevana

Tsigiro yekufema uye / kana kudyisa chubhu kungave kuri madikanwa kufambisa kufema nekudyisa mucheche, dzimwe nguva kubva pakuzvarwa. Kana rubatsiro rwekufema runofanira kuchengetedzwa nekufamba kwenguva, tracheotomy (kuvhura kudiki mu trachea, pamutsipa) inoitwa kuunza cannula zvakananga kuve nechokwadi chekupfuura kwemhepo mumhepo.

Kuvhiya kurapwa kwezvikanganiso

Zvakawanda kana kushoma kupindira uye kwakawanda kupindira kwekuvhiya, zvine chekuita neakanyorova mukanwa, shaya, chirebvu, nzeve, maziso uye mhino zvinogona kukurudzirwa kufambisa kudya, kufema kana kunzwa, asiwo kudzikisa kunaka kwekukanganisa.

Sechiratidzo, kutsemuka kwemukanwa munyoro kunovharwa kusati kwasvika mwedzi mitanhatu, maitiro ekutanga ekuzora paziso uye cheekbones kubva pamakore maviri, kurebesa mandible (mandibular kutsauswa) kuenda ku6 kana 2 makore, kubatanidza zvakare. nzeve yepina pamakore masere ekuzvarwa, kukwidziridzwa kwenzira dzekunzwa uye / kana kuvhiyiwa kweiyo ossicles makore gumi kusvika gumi nemaviri…

Kunzwa rubatsiro

Zviyamuro zvekunzwa dzimwe nguva zvinogoneka kubva pazera remwedzi 3 kana 4 apo kusanzwa kunobata nzeve mbiri. Mhando dzakasiyana dzeprostheses dziripo zvichienderana nemhando yekukuvara, nekubudirira kwakanaka.

Kutevera kwekurapa uye paramedical

Kuti udzikise nekudzivirira hurema, kugara uchitarisa kune multidisciplinary uye kudaidza nyanzvi dzakasiyana siyana:

• ENT (njodzi huru yekutapukirwa)
• Ophthalmologist (kururamiswa kwekuvhiringidzika kwekuona) uye orthoptist (kugadzirisa ziso)
• Chiremba wemazino uye orthodontist
• Speech Therapist…

Tsigiro yepfungwa uye yedzidzo inowanzodikanwa.