Dab tsi yog treacher collins syndrome, ua rau, tshwm sim thiab kho mob

Zoo Siab

• Cov Ua Rau Treacher Collins syndrome
• Cov tsos mob ua tau
• Yuav kho tus mob li cas

Treacher Collins syndrome, tseem hu ua mandibulofacial dysostosis, yog ib qho kev mob caj ces tsis tshua muaj tshwm sim los ntawm kev tsis ncaj ncees hauv lub taub hau thiab lub ntsej muag, ua rau tus neeg muaj qhov muag plooj thiab lub ntsej muag tsis muaj kev sib luag vim tias kev txhim kho pob txha taub hau tsis tiav, uas tuaj yeem tshwm sim rau txiv neej zoo li poj niam.

Vim tias cov pob txha tsis zoo, cov neeg muaj tus mob no yuav hnov ​​nyuaj, ua pa thiab noj mov, txawm li cas los xij, Treacher Collins syndrome tsis ua rau muaj kev pheej hmoo tuag thiab tsis cuam tshuam rau lub hauv nruab nrab cov hlab hlwb, tso cai rau kev txhim kho muaj nyob ib txwm.

Cov Ua Rau Treacher Collins syndrome

Cov tsos mob no feem ntau yog tshwm sim los ntawm kev hloov pauv hauv TCOF1, POLR1C lossis POLR1D cov noob nyob rau ntawm cov keebkwm 5, uas encodes muaj protein nrog cov haujlwm tseem ceeb hauv kev tswj cov hlwb los ntawm cov neural crest, uas yog lub hlwb yuav tsim cov pob txha pob ntseg, ntsej muag. thiab tseem lub pob ntseg nyob hauv thawj lub lis piam ntawm embryo kev loj hlob.

Treacher Collins syndrome yog tus kab mob autosomal tseem ceeb ntawm kev mob caj ces, yog li kev muaj peev xwm kis tus mob tau 50% yog tias ib tus niam txiv muaj qhov teeb meem no.

Nws yog ib qho tseem ceeb rau tus kws kho mob los ua qhov sib txawv ntawm kev kuaj mob ntawm lwm yam kab mob xws li Goldenhar's syndrome, Nager tus mob acrofacial dysostosis thiab Millers's syndrome, vim lawv muaj cov cim zoo sib xws.

Cov tsos mob ua tau

Cov tsos mob ntawm Treacher Collins syndrome suav nrog:

• Droopy ob lub qhov muag, luaj li lub di ncauj lossis lub ru tsev ntawm lub qhov ncauj;
• Lub pob ntseg me me lossis tsis tuaj;
• Tsis tuaj plaub hau;
• Hnov muaj suab nrov nrov;
• Kev tsis qee qee cov pob txha ntsej muag, xws li cheekbones thiab lub puab tsaig;
• Kev nyuaj ntawm kev zom;
• Cov teeb meem ua pa.

Vim tias pom tshwm sim los ntawm tus kab mob, cov kev puas siab puas ntsws tuaj yeem tshwm sim, xws li kev nyuaj siab thiab kev npau taws, uas tshwm sim hloov thiab tuaj yeem daws nrog kev kho mob hlwb.

Yuav kho tus mob li cas

Kev kho yuav tsum ua raws li cov tsos mob thiab cov kev xav tau tshwj xeeb ntawm txhua tus neeg, thiab txawm hais tias tsis muaj kev kho tau tus kab mob, kev phais mob tuaj yeem ua kom rov kho pob txha ntsej muag, txhim kho qhov zoo nkauj thiab ua haujlwm ntawm cov plab hnyuv siab raum thiab ntawm lub siab. Cov.

Ntxiv rau, kev kho mob ntawm tus mob no tseem muaj kev txhim kho cov teeb meem ua pa thiab pub mis teeb meem uas tshwm sim vim lub ntsej muag ua kom lub ntsej muag thiab cuam tshuam ntawm lub qog hypopharynx los ntawm tus nplaig.

Yog li, nws kuj tseem yuav tsum tau ua qhov nqaij ntuag, thiaj li ua kom muaj qhov hlab cua txaus, lossis lub plab khiav lag luam, uas yuav lav tau tias muaj caloric zoo.

Piv txwv li qhov tsis hnov ​​lus, kev kuaj mob yog ib qho tseem ceeb heev, yog li nws tuaj yeem kho nrog kev siv qog caj dab lossis phais mob, piv txwv.

Kev hais lus kho tuaj yeem piav qhia kom txhim kho tus me nyuam kev sib txuas lus nrog rau kev pab ua thaum nqos thiab zom.