Franceschetti syndrome: ua, cov tsos mob thiab kev kho mob ntawm tus kab mob no

Franceschetti Syndrome yog ib qho autosomal hom kab mob yus muaj los ntawm deformities-fascial lub ntsej muag cheeb tsam. Nws twb xub piav nyob rau hauv 1900 los ntawm cov British ophthalmologist Treacher Collins.

pathology yam ntxwv

Tus kab mob yog tsiag ntawv los ntawm xub ntiag ntawm tus neeg mob lub ntau yam ntawm lub ntsej muag deformities. Txij li thaum lub pathology npaj nyob rau hauv utero, tom qab yug tus me nyuam yuav tsum tau muab teem Treacher Collins syndrome, Franceschetti.

Tus kab mob no nws muaj nws tus kheej cov tsos mob thiab yuav luag tag txiav tawm tus me nyuam los ntawm zej zog, ua rau nws lub neej yooj yim dua thiab mob heev. Developmental mob ntawm pob txha cov ntaub so ntswg thiab ossification ua mob loj heev ntawm lub ntsej muag asymmetry, vim uas tus hnov thiab pom tau qhov sib pab ua immutable ntxwv pathology.

Franceschetti syndrome - ib tug tsawg caj teeb meem uas tshwm sim nyob rau hauv 1 nyob rau hauv 50,000 yug. Thaum cov tshuaj nepodvlasten tswj ntawm kev tshuaj ntsuam genetic change, li ntawd, yog tias koj muaj tej kev txawv txav nyob rau hauv lub tsev neeg, koj yuav tsum nco ntsoov mus xyuas cov noob caj noob ces, uas yuav pab tau kom xam qhov tshwm sim ntawm txoj kev loj hlob ntawm lub hauv plab me nyuam ntawm tej kev tshuaj ntsuam genetic txawv txav.

Cov ua ntawm tus kab mob

Txoj kev loj hlob ntawm tus kab mob yog txuam nrog impaired me nyuam hauv plab kev loj hlob nyob rau hauv lub sij hawm ntawm 6-7 lub lis piam. Kev ua txhaum yog laus nyob rau hauv lub embryonic ntsiab ntawm cov thawj ntses chaw dim pa koov.

Franceschetti syndrome yuav muaj cov zaubmov cov tsos mob tshwm, los ntawm obscure rau xav qhia pathologies ntawm lub pob txha taub hau. Lub syndrome yog pub nyob rau hauv ib tug autosomal hom kev zoo losis phem thiab muaj ib tug high feem pua ntawm cov phenotypic ces xws pathologies nyob rau hauv cov me nyuam.

Tej yam tshwm sim ntawm lub syndrome

Externally lub qhov muag syndrome yog qhia los ntawm oblique slits, tus txheej ntawm cov ces kaum uas yog rho puav cai coloboma xyoo pua (tsis muaj ib feem ntawm lub sab los yog sab sauv daim tawv muag), congenital cataracts, microphthalmia, paresis nqaij lub luag hauj lwm rau qhov muag zog.

Nyob rau hauv lub maxillofacial system cai hypoplasia ntawm lub zygomatic pob txha, sab sauv thiab sab puab tsaig. Raws li ib tug tshwm sim, ib tug tseem ceeb asymmetry ntawm lub ntsej muag, tej zaum tam sim no nyob rau hauv cov neeg mob cleft palate, tej zaum thawb cov lus, nrog rau dab tsi thaiv ntawm lub oropharynx thiab ua pa kab mob.

Cov hniav yog ib feem ntau underdeveloped, dav muab, muaj ib qho teeb meem nrog ib tug tom. Hypoplasia ntawm lub qis ib feem ntawm lub ntsej muag muab nws ib tug zoo noog. Nyob rau hauv tsawg zaus, muaj kev puas tsuaj loj ntshav tej kas tham, lub plawv, underdevelopment, nrog hydrocephalus.

Franceschetti syndrome yuav txawv los ntawm dysplasia Goldenhaara. Rau no pathology yam ntxwv nce nyob rau hauv lub xov tooj ntawm thoracic los yog lumbar pob txha caj qaum, lub caj dab synostosis, tsis hnov lus, pathologies ntawm cov qauv ntawm cov hnov meatus, forked nplaig, cleft palate.

Me me syndrome muaj yuav luag tsis muaj cov yam ntxwv hloov nyob rau hauv lub ntsej muag thaj av ntawd, muaj ib tug nruab nrab lub ntiajteb txawj nqus - teev tseg cov tsos mob yog qhia xyua. Loj syndrome yog tsiag ntawv los ntawm ua kom tiav tsis tuaj kawm ntawv ntawm lub ntsej muag nta nyob rau hauv cov me nyuam. Raws li statistics, ntsis syndrome feem ntau manifested, tab sis nyob rau hauv feem ntau tus neeg mob tau los mus tshem tawm tsis xws luag los ntawm yas phais.

Franceschetti syndrome: Kev Kho Mob

Yuav kom kho cov neeg mob yuav tsum tau ua hauj lwm kho mob mus kom ze. Lub ntsiab teeb meem yog cov kev ua txhaum ntawm lub caj pas, nqos, tsis pom kev thiab hnov lus. Nyob rau hauv tej rooj plaub tej zaum nws yuav tsim nyog tracheostomy - lub lag luam ntawm phais anterior tracheal phab ntsa.

Tom qab gastrostomy (fistula tsim) nqa kev noj haus thiab tus neeg mob ua tsis taus pa. Yuav txhim kho cov tsos ntawm cov yas phais, tab sis nws yog ua li cas rau daim ntawv thov thiab tsuas yog thaum xeeb muaj tej yam uas muaj hnub nyoog.

Phais yuav tsum tau ib tug gradual kev hloov ntawm tsos thiab cov kev kho mob kauj ruam. Tsis xws luag yuav muab tshem tawm nyob rau hauv ib tug ob peb xyoos, los yog txawm decades. Nyob rau hauv tej rooj plaub, nws yog tsis yooj yim sua kom tiav kho ntawm lub ntsej muag deformities, li ntawd, cov kws kho mob los ntawm kev phais yuav tsuas yog me ntsis txo cov tsos mob thiab txhim kho tus neeg mob lub neej zoo.

Sim los lub rooj sib hais los ntawm kev phais (mus tseeb qauv ntawm cov hnov ossicles) nyob rau hauv tus neeg mob tsis muaj ib tug zoo ua hauj lwm, ces nws yog zoo dua rau lub hom phiaj no rau siv kom hnov lus, xaiv raws li ib tug neeg pathology thiab nrog cov qauv ntawm nruab nrab pob ntseg.

Franceschetti syndrome: duab ntawm cov neeg mob

Lub yees duab qhia tau hais tias cov neeg uas muaj lub syndrome Treacher Collins yog tsis tshua muaj siab ntseeg lub neej tshaj noj qab nyob zoo neeg. Lawv kawm los txais koj tus kheej, hlub koj lub ntsej muag, xav ua kom pab nyob rau hauv tib cov me nyuam uas tsis muaj siab xav nyob thiab polontsenno ntshai mus sab nraum vim hais tias ntawm lub ridicule ntawm lwm cov me nyuam.

Txawm tias ib tug kiag li noj qab nyob zoo cov niam txiv tej zaum yuav tau txais ib tug me nyuam nrog ib tug kev tshuaj ntsuam genetic tus kab mob.

Nyob rau hauv cov duab ua ntej thiab tom qab cov yas phais, tus hluas nkauj pom ib tug tseem ceeb sib txawv. Yog li ntawd, tsis txhob tag kev cia siab ua ntej lub sij hawm mus muab koj ob txhais tes. Koj yeej ib txwm nrhiav ib txoj kev los txhim kho lawv cov tsos.